Gene: BRCA2

Alternate names for this Gene: BRCC2|BROVCA2|FACD|FAD|FAD1|FANCD|FANCD1|GLM3|PNCA2|XRCC11

Gene Summary: Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele.

Gene is located in Chromosome: 13

Location in Chromosome : 13q13.1

Description of this Gene: BRCA2 DNA repair associated

Type of Gene: protein-coding

rs80359636 in BRCA2 gene and Abnormal behavior PMID 23628597 2013 Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

PMID 19188187 2009 Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations.

PMID 18855126 2009 Prevalence and characteristics of pancreatic cancer in families with BRCA1 and BRCA2 mutations.

PMID 20587410 2010 Risk of breast cancer in male BRCA2 carriers.

PMID 16141007 2005 Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.

PMID 18042939 2007 Breast cancer risk among male BRCA1 and BRCA2 mutation carriers.

rs11571818 in BRCA2 gene and Adenocarcinoma of large intestine PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs11571818 in BRCA2 gene and Adenocarcinoma of lung (disorder) PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs80359636 in BRCA2 gene and Attention deficit hyperactivity disorder PMID 19188187 2009 Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations.

PMID 18042939 2007 Breast cancer risk among male BRCA1 and BRCA2 mutation carriers.

PMID 20587410 2010 Risk of breast cancer in male BRCA2 carriers.

PMID 23628597 2013 Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

PMID 18855126 2009 Prevalence and characteristics of pancreatic cancer in families with BRCA1 and BRCA2 mutations.

PMID 16141007 2005 Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.

rs1057517565 in BRCA2 gene and BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 PMID 26187060 2016 Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.

PMID 8524414 1996 Identification of the breast cancer susceptibility gene BRCA2.

PMID 20736950 2010 Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis.

PMID 8988179 1997 Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene.

PMID 9585613 1998 Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study.

PMID 17850627 2007 Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families.

PMID 23199084 2010 Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.

PMID 21324516 2011 Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

PMID 22009639 2012 Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.

PMID 12698193 2003 BRCA1 and BRCA2 mutations in Scotland and Northern Ireland.

PMID 12955716 2003 Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

PMID 11359068 2001 Mutation analysis of a Mauritian hereditary breast cancer family reveals the BRCA2 6503deITT mutation previously found to recur in different ethnic populations.

PMID 11597388 2001 Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 10595255 1999 Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3A > G.

PMID 10433620 1999 Cancer risks in BRCA2 mutation carriers.

PMID 25940717 2015 Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma.

PMID 22798144 2012 Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

PMID 9150154 1997 Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.

PMID 22762150 2012 Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).

PMID 12142080 2002 Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed.

PMID 24578176 2014 Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history.

PMID 23683081 2013 Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).

PMID 15146557 2004 A high proportion of founder BRCA1 mutations in Polish breast cancer families.

PMID 20151322 2010 Comparative disease pattern of a patient with a novel BRCA2 truncation and knockout models for BRCA2.

PMID 19949853 2010 Two founder BRCA2 mutations predispose to breast cancer in young women.

PMID 16758124 2006 High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain).

PMID 12065746 2002 Biallelic inactivation of BRCA2 in Fanconi anemia.

PMID 24156927 2014 Central European BRCA2 mutation carriers: birth cohort status correlates with onset of breast cancer.

PMID 22729890 2012 A 24-color metaphase-based radiation assay discriminates heterozygous BRCA2 mutation carriers from controls by chromosomal radiosensitivity.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 18627636 2008 Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

PMID 20807450 2010 Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age.

PMID 25382762 2015 Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons.

PMID 31131967 2019 Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

PMID 15026808 2004 BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.

PMID 22486713 2012 Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan.

PMID 18451181 2008 Functional assays for classification of BRCA2 variants of uncertain significance.

PMID 16115142 2005 Inherited FANCD1/BRCA2 exon 7 splice mutations associated with acute myeloid leukaemia in Fanconi anaemia D1 are not found in sporadic childhood leukaemia.

PMID 18489799 2008 Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

PMID 21719596 2011 A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

PMID 24312913 2013 A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

PMID 20215541 2010 A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

PMID 16792514 2006 A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13.

PMID 22505045 2012 Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

PMID 17924331 2007 A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

PMID 22632462 2012 Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.

PMID 23451180 2013 Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.

PMID 10638982 2000 Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families.

PMID 24728577 2014 Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.

PMID 21990134 2012 A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

PMID 20383589 2010 Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland.

PMID 22678057 2012 Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.

PMID 23108138 2013 A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.

PMID 25428789 2015 Inherited predisposition to breast cancer among African American women.

PMID 15728167 2005 Prevalence of BRCA1 and BRCA2 mutations in women diagnosed with ductal carcinoma in situ.

PMID 26004055 2016 BRCA-associated pancreatico-biliary neoplasms: Four cases illustrating the emerging clinical impact of genotyping.

PMID 29707112 2018 Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.

PMID 18497862 2008 BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.

PMID 26635394 2016 RBP-Var: a database of functional variants involved in regulation mediated by RNA-binding proteins.

PMID 21702907 2011 A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

PMID 28678401 2017 Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.

PMID 29446198 2018 Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

PMID 25682074 2015 Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.

PMID 24010542 2014 High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.

PMID 15131399 2004 Cancer variation associated with the position of the mutation in the BRCA2 gene.

PMID 15918047 2005 Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families.

PMID 25371446 2015 Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer.

PMID 24607278 2014 Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families.

PMID 25151137 2015 Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing.

PMID 21120943 2011 EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.

PMID 18006916 2007 BRCA1 and BRCA2 mutations in an Asian clinic-based population detected using a comprehensive strategy.

PMID 16683254 2006 A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

PMID 19818148 2009 Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers.

PMID 25236687 2015 Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico.

PMID 26843898 2016 Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.

PMID 24728189 2014 The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

PMID 16826315 2006 BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families.

PMID 10978364 2000 BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease.

PMID 17636422 2008 BRCA1/2 mutation analysis in male breast cancer families from North West England.

PMID 22682623 2012 Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico.

PMID 11802209 2002 Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

PMID 21204799 2012 A founder BRCA2 mutation in non-Afrikaner breast cancer patients of the Western Cape of South Africa.

PMID 24152768 2014 Genetic risk transmission in a family affected by familial breast cancer.

PMID 25948282 2015 New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

PMID 24784157 2014 The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

PMID 25330149 2015 Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

PMID 24123850 2014 Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.

PMID 24249303 2015 Prevalence and differentiation of hereditary breast and ovarian cancers in Japan.

PMID 25348012 2014 Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

PMID 27157322 2016 Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel.

PMID 28339459 2017 Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.

PMID 26757417 2016 Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing.

PMID 26439132 2016 BRCA1 and BRCA2 mutations in Japanese patients with ovarian, fallopian tube, and primary peritoneal cancer.

PMID 18424508 2008 Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.

PMID 18703817 2008 The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families.

PMID 28111427 2017 Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

PMID 27741520 2016 Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.

PMID 18597679 2008 Novel de novo BRCA2 mutation in a patient with a family history of breast cancer.

PMID 21990299 2011 Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer.

PMID 26787237 2016 Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 16644204 2006 BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives.

PMID 25366421 2015 Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing.

PMID 16912212 2006 Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years.

PMID 18284688 2008 Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.

PMID 23524863 2013 Poly (ADP-ribose) polymerase (PARP) inhibitors for the treatment of advanced germline BRCA2 mutant prostate cancer.

PMID 21952622 2011 BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 11179017 2001 Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.

PMID 17262179 2007 Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.

PMID 18607349 2008 Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.

PMID 27886673 2016 In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample.

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 19043619 2008 Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

PMID 18724707 2008 Computational and structural investigation of deleterious functional SNPs in breast cancer BRCA2 gene.

PMID 20513136 2010 Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.

PMID 25146914 2014 An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.

PMID 23893897 2013 Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.

PMID 19200354 2009 A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.

PMID 26221963 2015 Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population.

PMID 19563646 2009 A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.

PMID 20104584 2010 Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

PMID 22706548 2012 Lessons learned from a complete remission of advanced metastatic pancreatic ductal adenocarcinoma.

PMID 12960223 2003 Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families.

PMID 18824701 2008 Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.

PMID 16168118 2005 High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.

PMID 15024741 2004 BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic.

PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.

PMID 26296696 2015 Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening.

PMID 24830819 2014 The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay.

PMID 26681678 2016 Prospective phase II trial of trabectedin in BRCA-mutated and/or BRCAness phenotype recurrent ovarian cancer patients: the MITO 15 trial.

PMID 16455195 2007 BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations.

PMID 22217648 2012 Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.

PMID 12204006 2002 Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families.

PMID 25011685 2014 Rapid evolution of BRCA1 and BRCA2 in humans and other primates.

PMID 20167696 2010 Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning.

PMID 23479189 2013 Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.

PMID 11389159 2001 BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.

PMID 11857748 2002 Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain.

PMID 14985394 2004 The impact of proband mediated information dissemination in families with a BRCA1/2 gene mutation.

PMID 17445839 2007 Loss of nuclear BRCA1 protein staining in normal tissue cells derived from BRCA1 and BRCA2 mutation carriers.

PMID 18955455 2008 """BRCAness"" syndrome in ovarian cancer: a case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations."

PMID 25628955 2015 Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX.

PMID 16030099 2005 Prevalence of BRCA mutations and founder effect in high-risk Hispanic families.

PMID 15876480 2006 BRCA1-2 mutations in breast cancer: identification of nine new variants of BRCA1-2 genes in a population from central Western Spain.

PMID 18286383 2008 Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba.

PMID 22535016 2012 Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.

PMID 14647210 2003 A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer.

PMID 26296701 2015 Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.

PMID 17688236 2007 Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer.

PMID 18446624 2008 Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource.

PMID 18393245 2008 [Analysis of BRCA2 gene mutations among familial and/or early-onset breast cancer patients in eastern Shandong of China].

PMID 25356972 2015 BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

PMID 24302565 2015 Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.

PMID 28807866 2017 BRCA1/2 missense mutations and the value of in-silico analyses.

PMID 26913838 2016 Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

PMID 18182601 2008 Variation of breast cancer risk among BRCA1/2 carriers.

PMID 21769658 2012 Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.

PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 17624602 2007 BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma.

PMID 22044689 2012 BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia.

PMID 23569316 2013 Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer.

PMID 12920083 2003 Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population based series from the Cooperative Family Registry for Breast Cancer Studies.

PMID 11056688 2000 BRCA1 and BRCA2 mutations in central and southern Italian patients.

PMID 25136594 2014 Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.

PMID 19654294 2009 Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma.

PMID 21895635 2012 BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica.

PMID 12048272 2002 Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO.

PMID 21913181 2012 Earlier age of onset of BRCA mutation-related cancers in subsequent generations.

PMID 12938098 2003 Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

PMID 26761715 2016 Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.

PMID 8673091 1996 BRCA2 germline mutations in male breast cancer cases and breast cancer families.

PMID 9150172 1997 BRCA2 mutations in hereditary breast and ovarian cancer in France.

PMID 9792861 1998 Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families.

PMID 20694749 2010 Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer.

PMID 19340607 2009 "Methylation not a frequent ""second hit"" in tumors with germline BRCA mutations."

PMID 26483394 2016 Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.

PMID 24504028 2014 Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.

PMID 27469594 2016 A Survey of BRCA1, BRCA2, and PALB2 mutations in women with breast cancer in Trinidad and Tobago.

PMID 11897832 2002 Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany.

PMID 16168123 2005 Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer.

PMID 17591842 2007 High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.

PMID 27125725 2016 Multidisciplinary team for elucidation of any new mutation and how this approach can be useful to individualize any genetic result: the case of BRCA2 c.631G>A/c.7008-2A>T genotype Response to: Nagy PL, Mansukhani M. The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations. Expert Rev Mol Diagn 2015;15(9):1101-5.

PMID 19423647 2009 An unusual BRCA2 allele carrying two splice site mutations.

PMID 22962691 2012 Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.

PMID 19542536 2009 BRCA2 splice site mutations in an Italian breast/ovarian cancer family.

PMID 21523855 2011 Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.

PMID 19179552 2009 Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling.

PMID 21934105 2011 An emerging entity: pancreatic adenocarcinoma associated with a known BRCA mutation: clinical descriptors, treatment implications, and future directions.

PMID 27425403 2016 Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations.

PMID 29348823 2017 Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.

PMID 19787003 2009 Breast cancer in a BRCA2 mutation carrier with a history of prostate cancer.

PMID 12491487 2003 Breast cancer genetics in African Americans.

PMID 28637432 2017 Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers.

PMID 11836363 2002 Unique de novo mutation of BRCA2 in a woman with early onset breast cancer.

PMID 15340362 2004 Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations.

PMID 24131973 2013 BRCA mutations and outcome in epithelial ovarian cancer (EOC): experience in ethnically diverse groups.

PMID 19491284 2009 Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups.

PMID 21735045 2012 Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.

PMID 9361038 1997 Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes.

PMID 21497495 2011 The Korean Hereditary Breast Cancer (KOHBRA) study: protocols and interim report.

PMID 25802882 2015 Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing.

PMID 15548363 2005 BRCA2 mutations in 154 finnish male breast cancer patients.

PMID 17100994 2006 Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer.

PMID 15117986 2004 Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients.

PMID 16284991 2005 BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases.

PMID 23555315 2013 Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

PMID 25085752 2014 Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

PMID 26306726 2015 Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.

PMID 27062684 2016 Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study.

PMID 21218378 2010 Detection of BRCA1 and BRCA2 mutations in a selected Hawaii population.

PMID 21203900 2011 Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia.

PMID 15695382 2005 Functional evaluation and cancer risk assessment of BRCA2 unclassified variants.

PMID 22895246 2012 Hereditary inflammatory breast cancer associated with BRCA2 mutation: a rare disease presentation in mother and daughter.

PMID 26287763 2015 A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.

PMID 28294317 2017 The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing.

PMID 25639900 2015 Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes.

PMID 28176296 2017 BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer.

PMID 24735155 2014 Clear cell sarcoma of the kidney in a child with Fanconi anemia.

PMID 23096355 2012 BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela.

PMID 16528604 2006 BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families.

PMID 26250392 2015 Deleterious BRCA1/2 mutations in an urban population of Black women.

PMID 16489001 2006 Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

PMID 16170354 2006 Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene?

PMID 9167459 1997 Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium.

PMID 22720145 2012 Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing.

PMID 22711857 2012 BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group.

PMID 26824983 2016 Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.

PMID 21671020 2011 Effect of the overexpression of BRCA2 unclassified missense variants on spontaneous homologous recombination in human cells.

PMID 12442275 2002 BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.

PMID 23233716 2013 Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network.

PMID 12624724 2003 Evaluation of the diagnostic accuracy of the stop codon (SC) assay for identifying protein-truncating mutations in the BRCA1and BRCA2genes in familial breast cancer.

PMID 11149425 2001 Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families.

PMID 18779604 2008 Performance of BRCA1/2 mutation prediction models in Asian Americans.

PMID 20927582 2011 Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States.

PMID 16764716 2006 Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.

PMID 28205045 2017 Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.

PMID 12649099 2003 Predictive testing for BRCA1 and 2 mutations: a male contribution.

PMID 21947752 2012 The BRCA2 c.9004G>A (E2002K) [corrected] variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent.

PMID 23704879 2013 Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.

PMID 22771033 2012 BRCA2 localization to the midbody by filamin A regulates cep55 signaling and completion of cytokinesis.

PMID 25884701 2015 A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population.

PMID 16825431 2007 Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

PMID 14559878 2003 Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.

PMID 9667259 1998 Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk.

PMID 16234499 2005 Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry.

PMID 15887246 2005 Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: results from a prospective population-based study in France.

PMID 17899372 2008 Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.

PMID 22752604 2012 BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity.

PMID 24556621 2014 Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

PMID 16905680 2007 Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer.

PMID 15168169 2004 Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families.

PMID 22666503 2012 BRCA2 mutations and triple-negative breast cancer.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 19478387 2009 BRCA2 heterozygosity delays cytokinesis in primary human fibroblasts.

PMID 22144684 2012 Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.

PMID 22034289 2012 High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.

PMID 10227398 1999 High frequency of BRCA1/2 germline mutations in 42 Belgian families with a small number of symptomatic subjects.

PMID 12161607 2002 Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families.

PMID 22923021 2012 Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families.

PMID 12942367 2003 Inherited BRCA2 mutations in African Americans with breast and/or ovarian cancer: a study of familial and early onset cases.

PMID 9150150 1997 BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2.

PMID 8665505 1996 Mutations of the BRCA2 gene in ovarian carcinomas.

PMID 14757871 2004 Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families.

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PMID 12672316 2003 Prediction of pathogenic mutations in patients with early-onset breast cancer by family history.

PMID 19471317 2009 Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.

PMID 11106360 2000 2157delG: a frequent mutation in BRCA2 missed by PTT.

PMID 16539696 2006 Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.

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PMID 12474142 2003 Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene.

PMID 23028338 2012 Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

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PMID 23613520 2013 Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

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PMID 12845657 2003 Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study.

PMID 19241424 2009 BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer.

PMID 20033483 2010 Broad BRCA1 and BRCA2 mutational spectrum and high incidence of recurrent and novel mutations in the eastern Spain population.

PMID 18704680 2009 BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.

PMID 25827447 2015 Tracking the origins and drivers of subclonal metastatic expansion in prostate cancer.

PMID 25863477 2015 The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

PMID 11920621 2002 BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines.

PMID 24013928 2014 BRCA sequencing and large rearrangement testing in young Black women with breast cancer.

PMID 24737347 2014 BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts.

PMID 18042939 2007 Breast cancer risk among male BRCA1 and BRCA2 mutation carriers.

PMID 24528374 2015 Recurrent mutations of BRCA1 and BRCA2 in Poland: an update.

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PMID 12673801 2003 BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland.

PMID 15642173 2005 Histopathological features of breast tumours in BRCA1, BRCA2 and mutation-negative breast cancer families.

PMID 10644434 1999 Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations.

PMID 11890985 2002 Hereditary breast cancer associated with a germline BRCA2 mutation in identical female twins with similar disease expression.

PMID 15951958 2005 A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques.

PMID 10615237 1999 Incidence of malignant tumours in relatives of BRCA1 and BRCA2 germline mutation carriers.

PMID 11504767 2001 Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer.

PMID 9537231 1998 BRCA2 germ-line mutations are frequent in male breast cancer patients without a family history of the disease.

PMID 22085629 2011 Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Greece.

PMID 20373018 2010 Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics.

PMID 23884708 2014 Familial breast cancer genetic testing in the West of Ireland.

PMID 10188893 1999 Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.

PMID 17591843 2007 Founder mutations in BRCA1 and BRCA2 genes.

PMID 10498392 1999 Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study.

PMID 11044354 2000 Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.

PMID 17851763 2008 The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified.

PMID 21559243 2011 Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report.

PMID 23034506 2012 Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing.

PMID 15070707 2004 Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.

PMID 21553119 2012 Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.

PMID 17020472 2006 The P1812A and P25T BRCA1 and the 5164del4 BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews.

PMID 26023681 2015 Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

PMID 19912264 2010 BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin.

PMID 24333842 2014 Outcome of unexpected adnexal neoplasia discovered during risk reduction salpingo-oophorectomy in women with germ-line BRCA1 or BRCA2 mutations.

PMID 19796187 2009 Case report: de novo BRCA2 gene mutation in a 35-year-old woman with breast cancer.

PMID 18819001 2009 BRCA1/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-based study in central Italy.

PMID 22866093 2011 Genetic testing and first presymptomatic diagnosis in Moroccan families at high risk for breast/ovarian cancer.

PMID 11938448 2002 BRCA mutations in Italian breast/ovarian cancer families.

PMID 12181777 2002 Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan.

PMID 14973102 2004 BRCA1 and BRCA2 mutations in women from Shanghai China.

PMID 22430266 2012 Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.

PMID 9012404 1997 Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population.

PMID 19353265 2009 A BRCA2 founder mutation and seven novel deleterious BRCA mutations in southern Chinese women with breast and ovarian cancer.

PMID 22160602 2012 Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families.

PMID 28008555 2017 Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

PMID 23983145 2013 Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.

PMID 11920643 2002 Identification of BRCA1 and BRCA2 carriers by allele-specific gene expression (AGE) analysis.

PMID 26659639 2016 Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.

PMID 11972384 2002 Contribution of BRCA1 and BRCA2 to familial ovarian cancer: a gynecologic oncology group study.

PMID 10486320 1999 The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes.

PMID 23633455 2013 Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations.

PMID 10550133 1999 Survival in hereditary breast cancer associated with germline mutations of BRCA2.

PMID 15010701 2004 Founder mutations among the Dutch.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 15533909 2004 BRCA1 and BRCA2 mutations in a study of African American breast cancer patients.

PMID 11241844 2001 An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD).

PMID 23961350 2012 BRCA1 And BRCA2 analysis of Argentinean breastovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.

PMID 24094589 2013 A clinically validated diagnostic second-generation sequencing assay for detection of hereditary BRCA1 and BRCA2 mutations.

PMID 16047344 2005 Spectrum and prevalence of BRCA1 and BRCA2 germline mutations in Sardinian patients with breast carcinoma through hospital-based screening.

PMID 15733268 2005 Identification of germline BRCA1 and BRCA2 genetic alterations in Greek breast cancer moderate-risk and low-risk individuals--correlation with clinicopathological data.

PMID 26300996 2015 Cumulative BRCA mutation analysis in the Greek population confirms that homogenous ethnic background facilitates genetic testing.

PMID 11754111 2002 BRCA2 gene mutations in Greek patients with familial breast cancer.

PMID 18821011 2009 Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy.

PMID 19805903 2009 BRCA1 and BRCA2 germline mutation analysis among Indian women from south India: identification of four novel mutations and high-frequency occurrence of 185delAG mutation.

PMID 10660329 1998 Characterization of ten novel and 13 recurring BRCA1 and BRCA2 germline mutations in Italian breast and/or ovarian carcinoma patients. Mutations in brief no. 178. Online.

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PMID 23658460 2013 High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions.

PMID 20887823 2011 Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation.

PMID 22703879 2012 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

PMID 19188187 2009 Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations.

PMID 15994883 2005 Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies.

PMID 8673092 1996 Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer.

PMID 9145676 1997 The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews.

PMID 10570174 1999 Truncated BRCA2 is cytoplasmic: implications for cancer-linked mutations.

PMID 26360800 2016 Increased risk of male cancer and identification of a potential prostate cancer cluster region in BRCA2.

PMID 26541979 2016 Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients.

PMID 11873550 2002 Diagnostic criteria for testing for BRCA1 and BRCA2: the experience of the Department of Defense Familial Breast/Ovarian Cancer Research Project.

PMID 18465347 2008 BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.

PMID 23767878 2013 BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families.

PMID 17513806 2007 Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes.

PMID 22366370 2012 Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia.

PMID 26586665 2016 BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.

PMID 16541310 2006 Telomerase immortalization of human mammary epithelial cells derived from a BRCA2 mutation carrier.

PMID 12036913 2002 Effect of germ-line genetic variation on breast cancer survival in a population-based study.

PMID 20587410 2010 Risk of breast cancer in male BRCA2 carriers.

PMID 23628597 2013 Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

PMID 18855126 2009 Prevalence and characteristics of pancreatic cancer in families with BRCA1 and BRCA2 mutations.

PMID 16141007 2005 Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.

PMID 21939546 2011 An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition.

PMID 23857704 2013 Tumour diploidy and survival in breast cancer patients with BRCA2 mutations.

PMID 10807692 2000 Chromosome 8p alterations in sporadic and BRCA2 999del5 linked breast cancer.

PMID 9150155 1997 Study of a single BRCA2 mutation with high carrier frequency in a small population.

PMID 9634522 1998 The 8765delAG mutation in BRCA2 is common among Jews of Yemenite extraction.

PMID 19941162 2010 High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays.

PMID 8673090 1996 Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families.

PMID 19619314 2009 A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.

PMID 11102977 2000 High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer.

PMID 10506595 1999 BRCA1/BRCA2 germline mutations in locally recurrent breast cancer patients after lumpectomy and radiation therapy: implications for breast-conserving management in patients with BRCA1/BRCA2 mutations.

PMID 21063910 2011 Two BRCA1/2 founder mutations in Jews of Sephardic origin.

PMID 22399190 2012 Recurrent germline mutations in BRCA1 and BRCA2 genes in high risk families in Israel.

PMID 17011978 2006 RNA-based analysis of BRCA1 and BRCA2 gene alterations.

PMID 12606139 2003 The BRCA2 sequence variant IVS19+1G-->A leads to an aberrant transcript lacking exon 19.

PMID 16619214 2006 Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.

PMID 21232165 2011 The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.

PMID 22425665 2012 BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.

PMID 26681682 2016 Genetic testing in a cohort of young patients with HER2-amplified breast cancer.

PMID 16211554 2005 Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families.

PMID 21394826 2011 Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.

PMID 12759930 2003 Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.

PMID 15004464 2003 Screening Fanconi anemia lymphoid cell lines of non-A, C, D2, E, F, G subtypes for defects in BRCA2/FANCD1.

PMID 11185744 2000 The BRCA2 genetic variant IVS7 + 2T-->G is a mutation.

PMID 25395318 2014 Novel and recurrent BRCA2 mutations in Italian breast/ovarian cancer families widen the ovarian cancer cluster region boundaries to exons 13 and 14.

PMID 26556299 2016 Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

PMID 20127978 2010 Genetic diagnosis of familial breast cancer using clonal sequencing.

rs7328654 in BRCA2 gene and Basal Cell Cancer PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs7328654 in BRCA2 gene and Basal Cell Neoplasm PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs7328654 in BRCA2 gene and Basal cell carcinoma PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs11571818 in BRCA2 gene and Breast Carcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

PMID 25751625 2015 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

rs11571818 in BRCA2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs11571818 in BRCA2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs11571818 in BRCA2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs11571818 in BRCA2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs11571818 in BRCA2 gene and Carcinoma of lung PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 24880342 2014 We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 × 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 × 10(-13)).

PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs11571818 in BRCA2 gene and Colorectal Carcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 27165003 2016 The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.

rs11571818 in BRCA2 gene and Colorectal Neoplasms PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

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PMID 17416853 2007 Meta-analysis of BRCA1 and BRCA2 penetrance.

rs587779349 in BRCA2 gene and Ectopic kidney PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.

rs11571818 in BRCA2 gene and Endometrioid carcinoma ovary PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

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PMID 14670928 2004 Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood.

PMID 21719596 2011 A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

PMID 16825431 2007 Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

PMID 14559878 2003 Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.

PMID 12065746 2002 Biallelic inactivation of BRCA2 in Fanconi anemia.

PMID 23108138 2013 A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.

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PMID 11185744 2000 The BRCA2 genetic variant IVS7 + 2T-->G is a mutation.

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PMID 15070707 2004 Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.

PMID 26920070 2016 BRCA2 minor transcript lacking exons 4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation.

PMID 21548014 2012 The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations.

PMID 25085752 2014 Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

PMID 16825431 2007 Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

PMID 15645491 2005 A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations.

PMID 23893897 2013 Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.

PMID 25682074 2015 Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.

PMID 21719596 2011 A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

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rs587779349 in BRCA2 gene and Global developmental delay PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.

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PMID 18855126 2009 Prevalence and characteristics of pancreatic cancer in families with BRCA1 and BRCA2 mutations.

PMID 20587410 2010 Risk of breast cancer in male BRCA2 carriers.

PMID 18042939 2007 Breast cancer risk among male BRCA1 and BRCA2 mutation carriers.

PMID 23628597 2013 Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

PMID 19188187 2009 Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations.

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PMID 22678057 2012 Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.

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PMID 12955716 2003 Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

PMID 12161611 2002 A breast cancer family from Spain with germline mutations in both the BRCA1 and BRCA2 genes.

PMID 9537231 1998 BRCA2 germ-line mutations are frequent in male breast cancer patients without a family history of the disease.

PMID 10227398 1999 High frequency of BRCA1/2 germline mutations in 42 Belgian families with a small number of symptomatic subjects.

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PMID 18607349 2008 Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.

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PMID 26360800 2016 Increased risk of male cancer and identification of a potential prostate cancer cluster region in BRCA2.

PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

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PMID 11504767 2001 Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer.

PMID 8988179 1997 Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene.

PMID 18694767 2008 Molecular and in silico analysis of BRCA1 and BRCA2 variants.

PMID 22798144 2012 Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

PMID 12142080 2002 Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed.

PMID 22085629 2011 Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Greece.

PMID 10923033 2000 The breast cancer information core: database design, structure, and scope.

PMID 22977638 2011 Novel sequence variants and common recurrent polymorphisms of BRCA2 in Sri Lankan breast cancer patients and a family with BRCA1 mutations.

PMID 20151322 2010 Comparative disease pattern of a patient with a novel BRCA2 truncation and knockout models for BRCA2.

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PMID 29368341 2018 Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.

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PMID 12655567 2003 Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: identification of four novel truncating mutations.

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PMID 18176857 2008 Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1.

PMID 19912264 2010 BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin.

PMID 12928470 2003 Association between BRCA1 mutations and ratio of female to male births in offspring of families with breast cancer, ovarian cancer, or both.

PMID 15937982 2005 Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis.

PMID 14684619 2004 High-throughput mutation detection method to scan BRCA1 and BRCA2 based on heteroduplex analysis by capillary array electrophoresis.

PMID 16261400 2006 Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations.

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PMID 22729890 2012 A 24-color metaphase-based radiation assay discriminates heterozygous BRCA2 mutation carriers from controls by chromosomal radiosensitivity.

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PMID 12065746 2002 Biallelic inactivation of BRCA2 in Fanconi anemia.

PMID 9150152 1997 A low proportion of BRCA2 mutations in Finnish breast cancer families.

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PMID 26843898 2016 Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.

PMID 11102986 2000 Ten novel BRCA1 and BRCA2 mutations in breast and/or ovarian cancer families from northern Germany.

PMID 26221963 2015 Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population.

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PMID 27798748 2017 Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel.

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PMID 28008555 2017 Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

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PMID 9150172 1997 BRCA2 mutations in hereditary breast and ovarian cancer in France.

PMID 25395318 2014 Novel and recurrent BRCA2 mutations in Italian breast/ovarian cancer families widen the ovarian cancer cluster region boundaries to exons 13 and 14.

PMID 20215541 2010 A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

PMID 25256924 2014 BRCA1 germline mutations may be associated with reduced ovarian reserve.

PMID 25447315 2014 Cycling with BRCA2 from DNA repair to mitosis.

PMID 22505045 2012 Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

PMID 26968956 2016 Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients.

PMID 18489799 2008 Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

PMID 24916970 2015 The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.

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PMID 22430266 2012 Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.

PMID 16792514 2006 A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13.

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PMID 15026808 2004 BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.

PMID 17924331 2007 A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

PMID 16931905 2006 Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinic.

PMID 16115142 2005 Inherited FANCD1/BRCA2 exon 7 splice mutations associated with acute myeloid leukaemia in Fanconi anaemia D1 are not found in sporadic childhood leukaemia.

PMID 17453335 2008 Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients.

PMID 23451180 2013 Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.

PMID 23035815 2012 High grade prostatic intraepithelial neoplasia does not display loss of heterozygosity at the mutation locus in BRCA2 mutation carriers with aggressive prostate cancer.

PMID 10638982 2000 Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families.

PMID 21990134 2012 A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

PMID 25382762 2015 Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons.

PMID 17011978 2006 RNA-based analysis of BRCA1 and BRCA2 gene alterations.

PMID 17148771 2006 Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada.

PMID 11802209 2002 Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

PMID 19043619 2008 Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

PMID 27616075 2017 Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

PMID 23108138 2013 A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.

PMID 25085752 2014 Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

PMID 24728577 2014 Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.

PMID 25948282 2015 New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

PMID 22366370 2012 Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia.

PMID 21965345 2011 Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes.

PMID 18724707 2008 Computational and structural investigation of deleterious functional SNPs in breast cancer BRCA2 gene.

PMID 20383589 2010 Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland.

PMID 16284991 2005 BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases.

PMID 11102977 2000 High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer.

PMID 21120943 2011 EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.

PMID 14555518 2003 BRCA2 mutations and androgen receptor expression as independent predictors of outcome of male breast cancer patients.

PMID 18703817 2008 The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families.

PMID 28324225 2017 Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.

PMID 25428789 2015 Inherited predisposition to breast cancer among African American women.

PMID 26250392 2015 Deleterious BRCA1/2 mutations in an urban population of Black women.

PMID 16234499 2005 Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry.

PMID 15728167 2005 Prevalence of BRCA1 and BRCA2 mutations in women diagnosed with ductal carcinoma in situ.

PMID 28152038 2017 Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

PMID 24830819 2014 The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay.

PMID 21318380 2011 Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.

PMID 24010542 2014 High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.

PMID 28195393 2017 Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.

PMID 15918047 2005 Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families.

PMID 26681682 2016 Genetic testing in a cohort of young patients with HER2-amplified breast cancer.

PMID 14973102 2004 BRCA1 and BRCA2 mutations in women from Shanghai China.

PMID 24240112 2014 Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

PMID 21394826 2011 Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.

PMID 12097290 2002 Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%.

PMID 12942367 2003 Inherited BRCA2 mutations in African Americans with breast and/or ovarian cancer: a study of familial and early onset cases.

PMID 24301060 2014 Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.

PMID 27741520 2016 Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.

PMID 16920162 2006 Cellular characterization of cells from the Fanconi anemia complementation group, FA-D1/BRCA2.

PMID 9609997 1998 High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families.

PMID 19806429 2012 Three cases of kindred with familial breast cancer in which carrier detection by BRCA gene testing was performed on family members.

PMID 29446198 2018 Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

PMID 16826315 2006 BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families.

PMID 15172125 2004 Increased rates of spontaneous sister chromatid exchange in lymphocytes of BRCA2+/- carriers of familial breast cancer clusters.

PMID 18006916 2007 BRCA1 and BRCA2 mutations in an Asian clinic-based population detected using a comprehensive strategy.

PMID 16683254 2006 A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

PMID 19818148 2009 Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers.

PMID 21138478 2011 Hepatoblastoma in a 4-year-old girl with Fanconi anaemia.

PMID 25863477 2015 The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

PMID 22970155 2012 Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.

PMID 30630528 2019 Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

PMID 25236687 2015 Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico.

PMID 28281021 2017 Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.

PMID 22762150 2012 Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).

PMID 29084914 2018 Location of Mutation in BRCA2 Gene and Survival in Patients with Ovarian Cancer.

PMID 20858050 2010 A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis.

PMID 28993434 2018 Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia.

PMID 22025144 2011 Uveal melanoma and BRCA1/BRCA2 genes: a relationship that needs further investigation.

PMID 11793480 2002 BRCA1 and BRCA2 mutations in Russian familial breast cancer.

PMID 29339979 2018 BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.

PMID 12112655 2002 BRCA1 and BRCA2 mutations in Turkish familial and non-familial ovarian cancer patients: a high incidence of mutations in non-familial cases.

PMID 12100744 2002 Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer.

PMID 26014432 2016 High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.

PMID 23772696 2014 Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria.

PMID 21638052 2011 Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing.

PMID 27060066 2016 Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.

PMID 18286383 2008 Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 10978364 2000 BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease.

PMID 19656164 2009 Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation.

PMID 24312913 2013 A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

PMID 23397983 2014 Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening.

PMID 12759930 2003 Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.

PMID 22962691 2012 Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.

PMID 18824701 2008 Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.

PMID 17636422 2008 BRCA1/2 mutation analysis in male breast cancer families from North West England.

PMID 24728189 2014 The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

PMID 21913181 2012 Earlier age of onset of BRCA mutation-related cancers in subsequent generations.

PMID 26913838 2016 Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

PMID 30883759 2019 Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.

PMID 25504618 2015 Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice.

PMID 26010302 2016 Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients.

PMID 19353265 2009 A BRCA2 founder mutation and seven novel deleterious BRCA mutations in southern Chinese women with breast and ovarian cancer.

PMID 21184276 2011 A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing.

PMID 24123850 2014 Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.

PMID 18712473 2009 The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts.

PMID 16489001 2006 Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

PMID 25802882 2015 Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing.

PMID 12145750 2002 BRCA2 T2722R is a deleterious allele that causes exon skipping.

PMID 26757417 2016 Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing.

PMID 28339459 2017 Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.

PMID 18424508 2008 Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.

PMID 15290653 2004 Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.

PMID 20567915 2010 Complete BRCA mutation screening in breast and ovarian cancer predisposition families from a North-Eastern Romanian population.

PMID 17972177 2007 BRCA1 and BRCA2 germline mutation analysis in the Indonesian population.

PMID 18597679 2008 Novel de novo BRCA2 mutation in a patient with a family history of breast cancer.

PMID 18465347 2008 BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.

PMID 21769658 2012 Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.

PMID 26787237 2016 Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.

PMID 16644204 2006 BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives.

PMID 17997147 2008 High frequency of BRCA1/2 germline mutations in consecutive ovarian cancer patients in Poland.

PMID 16168118 2005 High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.

PMID 18783588 2008 Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.

PMID 25366421 2015 Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing.

PMID 25066507 2014 Comprehensive BRCA1 and BRCA2 mutational profile in Lithuania.

PMID 19340607 2009 "Methylation not a frequent ""second hit"" in tumors with germline BRCA mutations."

PMID 28637432 2017 Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers.

PMID 15951958 2005 A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques.

PMID 24504028 2014 Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.

PMID 16912212 2006 Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years.

PMID 26023681 2015 Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

PMID 18284688 2008 Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.

PMID 17688236 2007 Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer.

PMID 23569316 2013 Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer.

PMID 21709188 2011 Secondary somatic mutations restoring BRCA1/2 predict chemotherapy resistance in hereditary ovarian carcinomas.

PMID 20002770 2009 Overexpression of RAD51 occurs in aggressive prostatic cancer.

PMID 17972171 2008 BARD1 variants are not associated with breast cancer risk in Australian familial breast cancer.

PMID 15070707 2004 Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.

PMID 19471317 2009 Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.

PMID 11179017 2001 Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.

PMID 18042939 2007 Breast cancer risk among male BRCA1 and BRCA2 mutation carriers.

PMID 15340362 2004 Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations.

PMID 23961350 2012 BRCA1 And BRCA2 analysis of Argentinean breastovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.

PMID 20513136 2010 Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.

PMID 24013206 2013 A cancer-associated BRCA2 mutation reveals masked nuclear export signals controlling localization.

PMID 25146914 2014 An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.

PMID 16978908 2007 Functional assays for BRCA1 and BRCA2.

PMID 20927582 2011 Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States.

PMID 15695382 2005 Functional evaluation and cancer risk assessment of BRCA2 unclassified variants.

PMID 11207042 2001 Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons.

PMID 18182994 2008 Prostate cancer in male BRCA1 and BRCA2 mutation carriers has a more aggressive phenotype.

PMID 18497862 2008 BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.

PMID 29088781 2017 BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile.

PMID 27886673 2016 In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample.

PMID 19200354 2009 A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.

PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.

PMID 25556971 2015 Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.

PMID 25685387 2015 Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes.

PMID 24307375 2014 Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

PMID 12960223 2003 Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families.

PMID 28831036 2017 BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 14559878 2003 Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.

PMID 18097605 2008 BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland.

PMID 9145678 1997 Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer.

PMID 15519522 2004 A gene-environment interaction between occupation and BRCA1/BRCA2 mutations in male breast cancer?

PMID 26296696 2015 Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening.

PMID 26306726 2015 Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.

PMID 24961674 2014 The prevalence of BRCA1/2 mutations of triple-negative breast cancer patients in Xinjiang multiple ethnic region of China.

PMID 27257965 2016 Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.

PMID 29470806 2018 Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations.

PMID 27194814 2016 Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic.

PMID 14647210 2003 A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer.

PMID 29969168 2018 Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.

PMID 27469594 2016 A Survey of BRCA1, BRCA2, and PALB2 mutations in women with breast cancer in Trinidad and Tobago.

PMID 26546047 2016 Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer.

PMID 21523855 2011 Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.

PMID 28726806 2018 Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).

PMID 20167696 2010 Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning.

PMID 17925560 2007 BRCA1 and BRCA2 genetic testing in Hispanic patients: mutation prevalence and evaluation of the BRCAPRO risk assessment model.

PMID 11389159 2001 BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.

PMID 14985394 2004 The impact of proband mediated information dissemination in families with a BRCA1/2 gene mutation.

PMID 17445839 2007 Loss of nuclear BRCA1 protein staining in normal tissue cells derived from BRCA1 and BRCA2 mutation carriers.

PMID 23320992 2013 Early onset breast cancer in a registry-based sample of African-american women: BRCA mutation prevalence, and other personal and system-level clinical characteristics.

PMID 26848529 2016 Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.

PMID 21614564 2012 Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer.

PMID 21559243 2011 Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report.

PMID 16998791 2006 Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients.

PMID 16030099 2005 Prevalence of BRCA mutations and founder effect in high-risk Hispanic families.

PMID 26543556 2015 Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2.

PMID 25628955 2015 Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX.

PMID 25716084 2015 The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer.

PMID 18445692 2008 Loss of heterozygosity at the BRCA2 locus detected by multiplex ligation-dependent probe amplification is common in prostate cancers from men with a germline BRCA2 mutation.

PMID 20807450 2010 Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age.

PMID 10359546 1999 Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer.

PMID 16847550 2006 Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families.

PMID 11710835 2001 Frequent somatic loss of BRCA1 in breast tumours from BRCA2 germ-line mutation carriers and vice versa.

PMID 16760289 2006 BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models.

PMID 20608899 2010 Fanconi anaemia, BRCA2 and familial considerations - follow up on a previous case report.

PMID 9150154 1997 Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.

PMID 10644434 1999 Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations.

PMID 22535016 2012 Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.

PMID 16170354 2006 Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene?

PMID 21993507 2012 Effects of BRCA1 and BRCA2 mutations on female fertility.

PMID 23929434 2013 The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

PMID 25330149 2015 Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

PMID 26296701 2015 Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.

PMID 28294317 2017 The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing.

PMID 10874312 2000 Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations.

PMID 18779604 2008 Performance of BRCA1/2 mutation prediction models in Asian Americans.

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PMID 24963353 2014 Returning individual research results for genome sequences of pancreatic cancer.

PMID 12048272 2002 Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO.

PMID 8705994 1996 Somatic and germline mutations of the BRCA2 gene in sporadic ovarian cancer.

PMID 22713736 2012 Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.

PMID 17262179 2007 Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.

PMID 15533909 2004 BRCA1 and BRCA2 mutations in a study of African American breast cancer patients.

PMID 24742220 2014 Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from medellín, Colombia.

PMID 9042907 1997 Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes?

PMID 17851763 2008 The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified.

PMID 23697973 2012 BRCA1 and BRCA2 germline mutation spectrum in hereditary breast/ovarian cancer families from Maghrebian countries.

PMID 11241844 2001 An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD).

PMID 16324400 2005 [Mutational analysis of BRCA1 and BRCA2 genes in early-onset breast cancer patients in Shanghai].

PMID 27553291 2016 High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients.

PMID 20353281 2010 Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers.

PMID 22072316 2012 DHPLC/SURVEYOR nuclease: a sensitive, rapid and affordable method to analyze BRCA1 and BRCA2 mutations in breast cancer families.

PMID 21989927 2012 Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy.

PMID 11754111 2002 BRCA2 gene mutations in Greek patients with familial breast cancer.

PMID 16047344 2005 Spectrum and prevalence of BRCA1 and BRCA2 germline mutations in Sardinian patients with breast carcinoma through hospital-based screening.

PMID 24737347 2014 BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts.

PMID 16162645 2006 Lymphocytes of BRCA1 and BRCA2 germ-line mutation carriers, with or without breast cancer, are not abnormally sensitive to the chromosome damaging effect of moderate folate deficiency.

PMID 15733268 2005 Identification of germline BRCA1 and BRCA2 genetic alterations in Greek breast cancer moderate-risk and low-risk individuals--correlation with clinicopathological data.

PMID 19619314 2009 A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.

PMID 24145998 2014 BRCA1/2 and clinical outcome in a monoinstitutional cohort of women with hereditary breast cancer.

PMID 8968085 1996 Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas.

PMID 9758598 1998 Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes.

PMID 10417300 1999 De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation.

PMID 26867194 2016 Sanger Sequencing for BRCA1 c.68_69del, BRCA1 c.5266dup and BRCA2 c.5946del Mutation Screen on Pap Smear Cytology Samples.

PMID 9042909 1997 The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women.

PMID 15994883 2005 Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies.

PMID 9145676 1997 The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews.

PMID 8758903 1996 A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals.

PMID 8673091 1996 BRCA2 germline mutations in male breast cancer cases and breast cancer families.

PMID 19188187 2009 Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations.

PMID 15944772 2005 Structure-based assessment of BRCA1 and BRCA2 mutations in a small Spanish population.

PMID 29884136 2018 Hereditary breast and ovarian cancer in Andalusian families: a genetic population study.

PMID 26687385 2016 Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel.

PMID 22044689 2012 BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia.

PMID 30103829 2018 BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population.

PMID 10785486 2000 Germline BRCA2 mutation in a patient with fallopian tube carcinoma: a case report.

PMID 14574155 2003 Histopathological characteristics of BRCA1- and BRCA2-associated intraperitoneal cancer: a clinic-based study.

PMID 16615107 2006 Low prevalence of (pre) malignant lesions in the breast and high prevalence in the ovary and Fallopian tube in women at hereditary high risk of breast and ovarian cancer.

PMID 27425403 2016 Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations.

PMID 9971877 1999 Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations.

PMID 17063270 2007 Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil.

PMID 12569143 2003 BRCA2 germline mutations in familial pancreatic carcinoma.

PMID 29464067 2018 Gene aberration profile of tumors of adolescent and young adult females.

PMID 11873550 2002 Diagnostic criteria for testing for BRCA1 and BRCA2: the experience of the Department of Defense Familial Breast/Ovarian Cancer Research Project.

PMID 12543786 2003 BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: a population-based study in Italy.

PMID 28291774 2017 BRCA2 secondary mutation-mediated resistance to platinum and PARP inhibitor-based therapy in pancreatic cancer.

PMID 25586199 2015 Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer.

PMID 12373604 2002 BRCA2 gene mutations in families with aggregations of breast and stomach cancers.

PMID 26657402 2016 Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children.

PMID 23767878 2013 BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families.

PMID 29922827 2018 Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

PMID 11606101 2001 Germline BRCA1-2 mutations in non-Ashkenazi families with double primary breast and ovarian cancer.

PMID 26915939 2016 Breast cancer in high-risk Afrikaner families: Is BRCA founder mutation testing sufficient?

PMID 28814288 2017 Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer.

PMID 23583677 2013 Pyrimidine base damage is increased in women with BRCA mutations.

PMID 9429140 1997 BRCA1 and BRCA2 mutation analysis in 86 early onset breast/ovarian cancer patients.

PMID 15955690 2005 A prospective study on predictive factors linked to the presence of BRCA1 and BRCA2 mutations in breast cancer patients.

PMID 9643283 1998 A population study of mutations and LOH at breast cancer gene loci in tumours from sister pairs: two recurrent mutations seem to account for all BRCA1/BRCA2 linked breast cancer in Iceland.

PMID 9150155 1997 Study of a single BRCA2 mutation with high carrier frequency in a small population.

PMID 19478387 2009 BRCA2 heterozygosity delays cytokinesis in primary human fibroblasts.

PMID 10807692 2000 Chromosome 8p alterations in sporadic and BRCA2 999del5 linked breast cancer.

PMID 8673089 1996 A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes.

PMID 15217494 2004 The Icelandic founder mutation BRCA2 999del5: analysis of expression.

PMID 8706004 1996 High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients.

PMID 17565157 2007 Prostate cancer progression and survival in BRCA2 mutation carriers.

PMID 16418514 2006 Population-based study of changing breast cancer risk in Icelandic BRCA2 mutation carriers, 1920-2000.

PMID 9766673 1998 High incidence of loss of heterozygosity in breast tumors from carriers of the BRCA2 999del5 mutation.

PMID 27083178 2016 Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial.

PMID 26147798 2015 The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data.

PMID 8673090 1996 Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families.

PMID 26577449 2015 BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer.

PMID 23885733 2013 Implementation of a breast cancer genetic service in South Africa - lessons learned.

PMID 21204799 2012 A founder BRCA2 mutation in non-Afrikaner breast cancer patients of the Western Cape of South Africa.

PMID 22638694 2012 CYP2D6 genotyping and use of antidepressants in breast cancer patients: test development for clinical application.

PMID 26046366 2015 Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

PMID 23884708 2014 Familial breast cancer genetic testing in the West of Ireland.

PMID 10682686 2000 Evidence of a founder BRCA1 mutation in Scotland.

PMID 17640379 2007 Origin and distribution of the BRCA2-8765delAG mutation in breast cancer.

PMID 22401979 2012 Allelic transcripts dosage effect in morphologically normal ovarian cells from heterozygous carriers of a BRCA1/2 French Canadian founder mutation.

PMID 11512557 2001 Haplotype analysis of BRCA2 8765delAG mutation carriers in French Canadian and Yemenite Jewish hereditary breast cancer families.

PMID 27603373 2016 First case report of an adrenocortical carcinoma caused by a BRCA2 mutation.

PMID 9634522 1998 The 8765delAG mutation in BRCA2 is common among Jews of Yemenite extraction.

PMID 23704984 2013 Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling.

PMID 11304778 2001 Germline mutations in BRCA1 and BRCA2 in breast-ovarian families from a breast cancer risk evaluation clinic.

PMID 27083775 2016 Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.

PMID 14732925 2004 Germ-line mutations in BRCA1 or BRCA2 in the normal breast are associated with altered expression of estrogen-responsive proteins and the predominance of progesterone receptor A.

PMID 21305653 2011 Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations.

PMID 28284943 2017 Energy efficient electrocoagulation using a new flow column reactor to remove nitrate from drinking water - Experimental, statistical, and economic approach.

PMID 18563556 2009 Expression profiling of familial breast cancers demonstrates higher expression of FGFR2 in BRCA2-associated tumors.

PMID 12750261 2003 Loss of coordinated androgen regulation in nonmalignant ovarian epithelial cells with BRCA1/2 mutations and ovarian cancer cells.

PMID 15635067 2005 Prevalence of BRCA2 mutations in a hospital based series of unselected breast cancer cases.

PMID 12655574 2003 Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain.

PMID 22228431 2012 Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene.

PMID 12655560 2003 Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast/ovarian cancer patients.

PMID 7627958 1995 Germline mutation of BRCA1 in Japanese breast cancer families.

PMID 23593081 2013 Prevalence of BRCA1 and BRCA2 Germline Mutations in Breast Cancer Women of Multiple Ethnic Region in Northwest China.

PMID 20223018 2006 Selected Aspects of Molecular Diagnostics of Constitutional Alterations in BRCA1 and BRCA2 Genes Associated with Increased Risk of Breast Cancer in the Polish Population.

PMID 23249957 2013 Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.

PMID 18627636 2008 Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

PMID 25639900 2015 Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes.

PMID 16619214 2006 Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.

PMID 12606139 2003 The BRCA2 sequence variant IVS19+1G-->A leads to an aberrant transcript lacking exon 19.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 28423363 2017 Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.

PMID 12461697 2002 BRCA2 founder mutation in Slovenian breast cancer families.

PMID 18439106 2008 BRCA2 gene mutations in Slovenian male breast cancer patients.

PMID 29707112 2018 Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.

PMID 19609323 2009 Structural basis for recruitment of BRCA2 by PALB2.

PMID 20020529 2010 Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance.

PMID 22527104 2012 Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.

PMID 16211554 2005 Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families.

PMID 26004055 2016 BRCA-associated pancreatico-biliary neoplasms: Four cases illustrating the emerging clinical impact of genotyping.

PMID 16550498 2006 Improving sensitivity of electrophoretic heteroduplex analysis using nucleosides as additives: Application to the breast cancer predisposition gene BRCA2.

PMID 15004464 2003 Screening Fanconi anemia lymphoid cell lines of non-A, C, D2, E, F, G subtypes for defects in BRCA2/FANCD1.

PMID 11185744 2000 The BRCA2 genetic variant IVS7 + 2T-->G is a mutation.

PMID 26834852 2016 Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.

PMID 23469205 2013 Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil.

PMID 26911350 2016 Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.

PMID 18594331 2008 EGFR mutant lung adenocarcinomas in patients with germline BRCA mutations.

PMID 1859433 1991 Regulation of phosphoenolpyruvate carboxylase from maize leaves by nitrate and alanine.

PMID 29566657 2018 Germline breast cancer susceptibility gene mutations and breast cancer outcomes.

PMID 28720843 2017 Clinical study of genomic drivers in pancreatic ductal adenocarcinoma.

PMID 15858120 2005 A novel BRCA2 mutation in an Indonesian family found with a new, rapid, and sensitive mutation detection method based on pooled denaturing gradient gel electrophoresis and targeted sequencing.

PMID 20127978 2010 Genetic diagnosis of familial breast cancer using clonal sequencing.

PMID 30263092 2018 Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline.

PMID 28288110 2017 HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures.

rs1555284612 in BRCA2 gene and Invasive Ductal Breast Carcinoma PMID 15145354 2004 Nonsense-mediated mRNA decay: terminating erroneous gene expression.

rs1799955 in BRCA2 gene and Low density lipoprotein cholesterol measurement PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs11571833 in BRCA2 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 16793542 2006 Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.

PMID 9150152 1997 A low proportion of BRCA2 mutations in Finnish breast cancer families.

PMID 9971877 1999 Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations.

PMID 10978364 2000 BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease.

PMID 9654203 1998 High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families.

PMID 15172753 2004 Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.

PMID 9609997 1998 High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families.

PMID 12938098 2003 Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

PMID 11948477 2002 Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer.

PMID 15026808 2004 BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.

PMID 12569143 2003 BRCA2 germline mutations in familial pancreatic carcinoma.

PMID 12145750 2002 BRCA2 T2722R is a deleterious allele that causes exon skipping.

PMID 15365993 2004 BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.

PMID 12373604 2002 BRCA2 gene mutations in families with aggregations of breast and stomach cancers.

PMID 14722926 2004 Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.

PMID 11241844 2001 An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD).

PMID 11139248 2001 BRCA2 germline mutations in male breast cancer patients in the Polish population.

PMID 11149425 2001 Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families.

PMID 10399947 1999 Germline brca2 sequence variants in patients with ocular melanoma.

PMID 12442274 2002 BRCA1 and BRCA2 sequence variants in Chinese breast cancer families.

PMID 17508274 2007 Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 18163131 2008 The emerging landscape of breast cancer susceptibility.

PMID 24366402 2014 Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.

PMID 24366376 2014 Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.

rs11571818 in BRCA2 gene and Malignant neoplasm of large intestine PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs11571833 in BRCA2 gene and Malignant neoplasm of lung PMID 24880342 2014 We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 × 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 × 10(-13)).

rs397507851 in BRCA2 gene and Malignant neoplasm of pancreas PMID 15145354 2004 Nonsense-mediated mRNA decay: terminating erroneous gene expression.

rs11571818 in BRCA2 gene and Malignant tumor of colon PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs1555284442 in BRCA2 gene and Mammary Neoplasms PMID 15145354 2004 Nonsense-mediated mRNA decay: terminating erroneous gene expression.

PMID 27257965 2016 Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.

rs80359541 in BRCA2 gene and Movement Disorders PMID 15796958 2005 BRCA1 and pancreatic cancer: pedigree findings and their causal relationships.

PMID 15197194 2004 Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.

PMID 12677558 2003 Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.

PMID 18042939 2007 Breast cancer risk among male BRCA1 and BRCA2 mutation carriers.

PMID 17416853 2007 Meta-analysis of BRCA1 and BRCA2 penetrance.

PMID 9497246 1998 Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.

PMID 16141007 2005 Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.

PMID 21952622 2011 BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients.

PMID 21568838 2011 Fanconi anemia: at the crossroads of DNA repair.

PMID 16825431 2007 Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

rs80359541 in BRCA2 gene and Muscle hypotonia PMID 21568838 2011 Fanconi anemia: at the crossroads of DNA repair.

PMID 9497246 1998 Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.

PMID 15796958 2005 BRCA1 and pancreatic cancer: pedigree findings and their causal relationships.

PMID 16141007 2005 Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.

PMID 12677558 2003 Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.

PMID 21952622 2011 BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients.

PMID 16825431 2007 Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

PMID 18042939 2007 Breast cancer risk among male BRCA1 and BRCA2 mutation carriers.

PMID 17416853 2007 Meta-analysis of BRCA1 and BRCA2 penetrance.

PMID 15197194 2004 Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.

rs1057518637 in BRCA2 gene and Neoplastic Syndromes, Hereditary PMID 23469205 2013 Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil.

PMID 12228710 2002 BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure.

PMID 26221963 2015 Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population.

PMID 11359068 2001 Mutation analysis of a Mauritian hereditary breast cancer family reveals the BRCA2 6503deITT mutation previously found to recur in different ethnic populations.

PMID 20104584 2010 Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

PMID 20736950 2010 Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis.

PMID 17636422 2008 BRCA1/2 mutation analysis in male breast cancer families from North West England.

PMID 26026974 2015 BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.

PMID 22009639 2012 Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.

PMID 26041759 2015 The BRCA2 polymorphic stop codon: stuff or nonsense?

PMID 24156927 2014 Central European BRCA2 mutation carriers: birth cohort status correlates with onset of breast cancer.

PMID 21324516 2011 Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

PMID 25085752 2014 Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 20859677 2011 Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families.

PMID 8524414 1996 Identification of the breast cancer susceptibility gene BRCA2.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 27383479 2016 Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants.

PMID 25320599 2014 Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.

PMID 25072261 2014 Overall survival and clinical characteristics of pancreatic cancer in BRCA mutation carriers.

PMID 16683254 2006 A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

PMID 25940717 2015 Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma.

PMID 23179792 2013 An unusual BRCA mutation distribution in a high risk cancer genetics clinic.

PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 12142080 2002 Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed.

PMID 11504767 2001 Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer.

PMID 11754111 2002 BRCA2 gene mutations in Greek patients with familial breast cancer.

PMID 15887246 2005 Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: results from a prospective population-based study in France.

PMID 18694767 2008 Molecular and in silico analysis of BRCA1 and BRCA2 variants.

PMID 25371446 2015 Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer.

PMID 8988179 1997 Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene.

PMID 22798144 2012 Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

PMID 22923021 2012 Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families.

PMID 18627636 2008 Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

PMID 24578176 2014 Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history.

PMID 15146557 2004 A high proportion of founder BRCA1 mutations in Polish breast cancer families.

PMID 23683081 2013 Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).

PMID 12698193 2003 BRCA1 and BRCA2 mutations in Scotland and Northern Ireland.

PMID 22711857 2012 BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group.

PMID 23633455 2013 Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations.

PMID 22217648 2012 Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.

PMID 16758124 2006 High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain).

PMID 19949853 2010 Two founder BRCA2 mutations predispose to breast cancer in young women.

PMID 25863477 2015 The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

PMID 22460208 2010 Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2.

PMID 19912264 2010 BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin.

PMID 23479189 2013 Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.

PMID 11857748 2002 Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain.

PMID 22729890 2012 A 24-color metaphase-based radiation assay discriminates heterozygous BRCA2 mutation carriers from controls by chromosomal radiosensitivity.

PMID 12065746 2002 Biallelic inactivation of BRCA2 in Fanconi anemia.

PMID 21232165 2011 The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.

PMID 12181777 2002 Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan.

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 18489799 2008 Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

PMID 22762150 2012 Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).

PMID 11139248 2001 BRCA2 germline mutations in male breast cancer patients in the Polish population.

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

PMID 26843898 2016 Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.

PMID 11102986 2000 Ten novel BRCA1 and BRCA2 mutations in breast and/or ovarian cancer families from northern Germany.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 25682074 2015 Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.

PMID 9150152 1997 A low proportion of BRCA2 mutations in Finnish breast cancer families.

PMID 16875939 2006 Twenty-three novel BRCA1 and BRCA2 sequence variations identified in a cohort of Swiss breast and ovarian cancer families.

PMID 29446198 2018 Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

PMID 28973083 2017 Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 29297111 2018 High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.

PMID 28541631 2017 Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing.

PMID 25395318 2014 Novel and recurrent BRCA2 mutations in Italian breast/ovarian cancer families widen the ovarian cancer cluster region boundaries to exons 13 and 14.

PMID 21719596 2011 A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

PMID 25556971 2015 Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.

PMID 27082205 2016 Identification of novel BRCA founder mutations in Middle Eastern breast cancer patients using capture and Sanger sequencing analysis.

PMID 25782689 2015 Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases.

PMID 22505045 2012 Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

PMID 28294317 2017 The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing.

PMID 28477318 2017 Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.

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