Gene: TP53

Alternate names for this Gene: BCC7|BMFS5|LFS1|P53|TRP53

Gene Summary: This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277).

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: tumor protein p53

Type of Gene: protein-coding

rs1057519747 in TP53 gene and Adenocarcinoma of lung (disorder) PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519747 in TP53 gene and Adenocarcinoma of pancreas PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519975 in TP53 gene and Adenocarcinoma of prostate PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs28934874 in TP53 gene and Adenoid Cystic Carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519747 in TP53 gene and Adrenocortical carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs78378222 in TP53 gene and Basal Cell Cancer PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

PMID 24403052 2014 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.

PMID 21946351 2011 A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.

PMID 25855136 2015 New basal cell carcinoma susceptibility loci.

rs78378222 in TP53 gene and Basal Cell Neoplasm PMID 25855136 2015 New basal cell carcinoma susceptibility loci.

PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

PMID 21946351 2011 A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.

PMID 24403052 2014 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.

PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs78378222 in TP53 gene and Basal cell carcinoma PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

PMID 24403052 2014 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.

PMID 21946351 2011 A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.

PMID 25855136 2015 New basal cell carcinoma susceptibility loci.

rs78378222 in TP53 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs35119871 in TP53 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs1057519747 in TP53 gene and Brain Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519747 in TP53 gene and Brain Stem Glioma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs78378222 in TP53 gene and Carcinoma, Basal Cell PMID 24403052 2014 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.

rs35850753 in TP53 gene and Central Nervous System Neoplasms PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

rs1057519981 in TP53 gene and Chronic Lymphocytic Leukemia PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519747 in TP53 gene and Colorectal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs1057519747 in TP53 gene and Cutaneous Melanoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs78378222 in TP53 gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs35850753 in TP53 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1057519747 in TP53 gene and Esophageal carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1625895 in TP53 gene and Estradiol level result PMID 22829776 2012 A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.

rs1625895 in TP53 gene and Estradiol measurement PMID 22829776 2012 A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.

rs78378222 in TP53 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1057519991 in TP53 gene and Gallbladder Carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519747 in TP53 gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519981 in TP53 gene and Glioblastoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

PMID 30152087 2018 Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age.

PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

rs35850753 in TP53 gene and Glioblastoma Multiforme PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

PMID 30152087 2018 Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age.

PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

rs35850753 in TP53 gene and Glioma PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

PMID 29743610 2018 Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21.

rs121913344 in TP53 gene and Head and Neck Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs1555526469 in TP53 gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 21514416 2011 Tissue microarray cytometry reveals positive impact of homeodomain interacting protein kinase 2 in colon cancer survival irrespective of p53 function.

PMID 18575712 2008 Analysis of the K-ras/B-raf/Erk signal cascade, p53 and CMAP as markers for tumor progression in colorectal cancer patients.

PMID 22877736 2012 Comparative genomic analysis of esophageal adenocarcinoma and squamous cell carcinoma.

PMID 24916180 2014 Double heterozygosity for germline mutations in BRCA1 and p53 in a woman with early onset breast cancer.

PMID 25056374 2015 Integrative and comparative genomic analysis of HPV-positive and HPV-negative head and neck squamous cell carcinomas.

rs8078476 in TP53 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1641549 in TP53 gene and Hormone measurement PMID 26014426 2016 Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.

rs11540652 in TP53 gene and LI-FRAUMENI SYNDROME 1 PMID 18511570 2008 Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.

PMID 11139324 2001 Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites.

PMID 9242456 1997 Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.

PMID 19556618 2009 High frequency of de novo mutations in Li-Fraumeni syndrome.

PMID 21343334 2011 Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.

PMID 17606709 2007 Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

PMID 1565143 1992 Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.

PMID 21305319 2011 Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome.

PMID 21601526 2011 Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.

PMID 12826609 2003 Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.

PMID 23161690 2013 The TP53 website: an integrative resource centre for the TP53 mutation database and TP53 mutant analysis.

PMID 21552135 2011 Gastric cancer in individuals with Li-Fraumeni syndrome.

PMID 1978757 1990 Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.

PMID 21192060 2011 Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and osteosarcoma in southeast Brazil.

PMID 27663983 2016 The Inherited p53 Mutation in the Brazilian Population.

PMID 19717094 2009 Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening?

PMID 11753428 2002 A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer.

PMID 26681051 2015 R337H mutation of the TP53 gene as a clinical marker in cancer patients: a systematic review of literature.

PMID 16033918 2006 Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.

PMID 27223487 2016 Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation.

PMID 16494995 2007 The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.

PMID 26572807 2016 Tetramer formation of tumor suppressor protein p53: Structure, function, and applications.

PMID 10864200 2000 P53 germline mutations in childhood cancers and cancer risk for carrier individuals.

PMID 26452166 2015 Occurrence of Neuroblastoma among TP53 p.R337H Carriers.

PMID 11315715 2000 A patient with 17 primary tumours and a germ line mutation in TP53: tumour induction by adjuvant therapy?

PMID 11494139 2001 Tissue-specific expression of SV40 in tumors associated with the Li-Fraumeni syndrome.

PMID 21080251 2011 Genetic mutations of p53 and k-ras in gastric carcinoma patients from Hunan, China.

PMID 17690113 2007 Identification and characterization of a novel germ line p53 mutation in familial gastric cancer in the Japanese population.

PMID 19468865 2009 TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.

PMID 1565144 1992 Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.

PMID 19012332 2009 Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome.

PMID 11370630 2001 Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.

PMID 8829627 1996 Molecular analysis of the TP53 gene in Barrett's adenocarcinoma.

PMID 26014290 2015 Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.

PMID 26878390 2016 Gain of function of mutant p53: R282W on the peak?

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 25619955 2015 Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients.

PMID 22672556 2012 Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature.

PMID 21059199 2010 Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome.

PMID 24573247 2014 Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations.

PMID 21761402 2012 Early onset HER2-positive breast cancer is associated with germline TP53 mutations.

PMID 9364015 1997 Simple identification of dominant p53 mutants by a yeast functional assay.

PMID 9667734 1998 Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning.

PMID 12885464 2003 A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors.

PMID 15951970 2005 The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds.

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 24122735 2013 Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.

PMID 16551709 2006 Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer.

PMID 23538418 2013 Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis.

PMID 1591732 1992 Screening for germ line TP53 mutations in breast cancer patients.

PMID 20522432 2010 TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.

PMID 20128691 2010 Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation.

PMID 16401470 2006 Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome.

PMID 10922393 2000 Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families.

PMID 27374712 2016 Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome.

PMID 24677579 2014 Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy.

PMID 22811390 2013 BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.

PMID 25787918 2015 A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies.

PMID 15390294 2004 Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation.

PMID 9047394 1997 A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li-Fraumeni patients carrying a mutation to the TP53 gene.

PMID 19881536 2010 A common gain of function of p53 cancer mutants in inducing genetic instability.

PMID 20689556 2011 Mutant p53(R175H) upregulates Twist1 expression and promotes epithelial-mesenchymal transition in immortalized prostate cells.

PMID 23792586 2013 A common p53 mutation (R175H) activates c-Met receptor tyrosine kinase to enhance tumor cell invasion.

PMID 22233476 2012 Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations.

PMID 17311302 2007 Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database.

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 1631137 1992 Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein.

PMID 26484312 2015 Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management.

PMID 15221755 2004 Functional protein microarrays for parallel characterisation of p53 mutants.

PMID 18818522 2008 Mutant p53 protein localized in the cytoplasm inhibits autophagy.

PMID 20471942 2010 DNA binding cooperativity of p53 modulates the decision between cell-cycle arrest and apoptosis.

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

PMID 23175693 2013 Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma.

PMID 11479205 2001 p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition.

PMID 21626334 2011 Pleomorphic carcinoma of the lung arising in a patient with Li-Fraumeni syndrome: report of a case.

PMID 7887414 1995 Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.

PMID 16534790 2007 Recognition of Li Fraumeni syndrome at diagnosis of a locally advanced extremity rhabdomyosarcoma.

PMID 18208484 2008 Choroid plexus carcinoma: a new case associated with a novel TP53 germ line mutation.

PMID 16633321 2006 [Germline tp53 neomutation in a patient with Li-Fraumeni syndrome and pancreatic adenocarcinoma].

PMID 12726864 2003 p53 polymorphism influences response in cancer chemotherapy via modulation of p73-dependent apoptosis.

PMID 28477316 2018 Gestational choriocarcinoma associated with a germline TP53 mutation.

PMID 25433984 2015 EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: report of two cases and review of the literature.

PMID 11896595 2002 Tumour p53 mutations exhibit promoter selective dominance over wild type p53.

PMID 17530187 2007 The over-expression of p53 H179Y residue mutation causes the increase of cyclin A1 and Cdk4 expression in HELF cells.

PMID 28369373 2017 Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

PMID 21464421 2011 Malignant peritoneal mesothelioma in a patient with Li-Fraumeni syndrome.

PMID 27501770 2016 Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.

PMID 18414213 2008 ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

PMID 9218725 1997 Li-Fraumeni syndrome--a molecular and clinical review.

PMID 22733133 2013 The p53 isoform, Δ133p53α, stimulates angiogenesis and tumour progression.

PMID 9764816 1998 Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome.

PMID 25503501 2015 Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

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

PMID 25584008 2015 Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.

PMID 23334666 2013 The genetic landscape of high-risk neuroblastoma.

PMID 14559903 2004 Isolation of temperature-sensitive p53 mutations from a comprehensive missense mutation library.

PMID 25925845 2015 Germline TP53 mutational spectrum in French Canadians with breast cancer.

PMID 20575032 2010 A specific linkage between the incidence of TP53 mutations and type of chromosomal translocations in B-precursor acute lymphoblastic leukemia cell lines.

PMID 9067756 1997 Three germline mutations in the TP53 gene.

rs78378222 in TP53 gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs1057519747 in TP53 gene and Leukemia, Myelocytic, Acute PMID 24381225 2014 Haploinsufficiency of del(5q) genes, Egr1 and Apc, cooperate with Tp53 loss to induce acute myeloid leukemia in mice.

PMID 24487413 2014 Comprehensive analysis of genetic alterations and their prognostic impacts in adult acute myeloid leukemia patients.

PMID 24641375 2014 Prognostic significance of TP53 mutations and single nucleotide polymorphisms in acute myeloid leukemia: a case series and literature review.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 20013323 2010 p53 is critical for the Aurora B kinase inhibitor-mediated apoptosis in acute myelogenous leukemia cells.

rs1057517840 in TP53 gene and Li-Fraumeni Syndrome PMID 8639798 1996 The p53 gene in pediatric therapy-related leukemia and myelodysplasia.

PMID 1737852 1992 Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.

PMID 17392385 2007 American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.

PMID 12826609 2003 Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.

PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

PMID 1978757 1990 Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.

PMID 8825920 1995 An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.

PMID 9452042 1998 A germline missense mutation R337C in exon 10 of the human p53 gene.

PMID 10484981 1999 Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.

PMID 1933902 1991 A germ line mutation in exon 5 of the p53 gene in an extended cancer family.

PMID 1565144 1992 Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.

PMID 7887414 1995 Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.

PMID 2259385 1991 Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome.

PMID 12917626 2003 Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay.

PMID 18628487 2008 The presence of TP53 mutation at diagnosis of follicular lymphoma identifies a high-risk group of patients with shortened time to disease progression and poorer overall survival.

PMID 18511570 2008 Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.

PMID 22319594 2012 Benzo[a]pyrene, aflatoxine B₁ and acetaldehyde mutational patterns in TP53 gene using a functional assay: relevance to human cancer aetiology.

PMID 25925845 2015 Germline TP53 mutational spectrum in French Canadians with breast cancer.

PMID 16494995 2007 The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.

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

PMID 26818906 2016 Genetic and functional analysis of a Li Fraumeni syndrome family in China.

PMID 21343334 2011 Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.

PMID 11920959 2002 Complex functions of mutant p53 alleles from human prostate cancer.

PMID 30224644 2018 Mutational processes shape the landscape of TP53 mutations in human cancer.

PMID 20522432 2010 TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.

PMID 21356188 2011 Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel.

PMID 10922393 2000 Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families.

PMID 20505364 2010 Transactivation by temperature-dependent p53 mutants in yeast and human cells.

PMID 16861262 2007 Inactive full-length p53 mutants lacking dominant wild-type p53 inhibition highlight loss of heterozygosity as an important aspect of p53 status in human cancers.

PMID 29324801 2018 Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark.

PMID 21345075 2011 Multiple malignancies in a child with de novo TP53 mutation.

PMID 26094658 2015 Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.

PMID 28961279 2017 The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.

PMID 22829111 2011 Functional assessment of p53 in chronic lymphocytic leukemia.

PMID 9290701 1997 Screening the p53 status of human cell lines using a yeast functional assay.

PMID 22507745 2012 Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.

PMID 11051239 2000 Heterogeneity in the clinical phenotype of TP53 mutations in breast cancer patients.

PMID 17724467 2008 Analysis of transactivation capability and conformation of p53 temperature-dependent mutants and their reactivation by amifostine in yeast.

PMID 18762572 2008 Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma.

PMID 23894400 2013 High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort.

PMID 25584008 2015 Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.

PMID 20017945 2009 Identification of a novel germ-line mutation in the TP53 gene in a Mexican family with Li-Fraumeni syndrome.

PMID 21761402 2012 Early onset HER2-positive breast cancer is associated with germline TP53 mutations.

PMID 27501770 2016 Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.

PMID 27328919 2016 TP53 Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data.

PMID 20198344 2010 Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage.

PMID 24382691 2014 Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers.

PMID 10980596 2000 Novel p53 splice site mutations in three families with Li-Fraumeni syndrome.

PMID 17606709 2007 Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

PMID 20128691 2010 Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation.

PMID 2046748 1991 The p53 tumour suppressor gene.

PMID 15381368 2004 Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin.

PMID 21601526 2011 Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.

PMID 1359493 1992 p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree.

PMID 9242456 1997 Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.

PMID 1565143 1992 Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.

PMID 21305319 2011 Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome.

PMID 23538418 2013 Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis.

PMID 24076587 2014 Mapping the p53 transcriptome universe using p53 natural polymorphs.

PMID 21445056 2011 Gain of function of mutant p53 by coaggregation with multiple tumor suppressors.

PMID 21552135 2011 Gastric cancer in individuals with Li-Fraumeni syndrome.

PMID 16778209 2006 Mutant p53 induces the GEF-H1 oncogene, a guanine nucleotide exchange factor-H1 for RhoA, resulting in accelerated cell proliferation in tumor cells.

PMID 23897043 2013 Validation of a yeast functional assay for p53 mutations using clonal sequencing.

PMID 9667734 1998 Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning.

PMID 22653678 2012 Prevalence of germline TP53 mutations and history of Li-Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: a population-based survey.

PMID 24603336 2014 Unequal prognostic potentials of p53 gain-of-function mutations in human cancers associate with drug-metabolizing activity.

PMID 23667202 2013 A young woman with bilateral breast cancer: identifying a genetic cause and implications for management.

PMID 9825943 1998 Astrocytomas and choroid plexus tumors in two families with identical p53 germline mutations.

PMID 23950206 2013 Clinical response to a lapatinib-based therapy for a Li-Fraumeni syndrome patient with a novel HER2V659E mutation.

PMID 22713868 2012 Mutant p53: one name, many proteins.

PMID 9598730 1998 Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation.

PMID 8425176 1993 Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer.

PMID 8099841 1993 Gain of function mutations in p53.

PMID 19378321 2009 Here, we report a family with LFS harboring a germline TP53 mutation (R248W) located in the functional domain of the protein that binds to the minor groove of the DNA.

PMID 22919068 2012 FOXM1 is a molecular determinant of the mitogenic and invasive phenotype of anaplastic thyroid carcinoma.

PMID 8527048 1995 The first documentation of Li-Fraumeni syndrome in Korea.

PMID 17427234 2008 It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists.

PMID 17417627 2007 p53 gain-of-function cancer mutants induce genetic instability by inactivating ATM.

PMID 1631137 1992 Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 20065170 2010 American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 12692171 2003 American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 25896519 2015 Germline TP53 variants and susceptibility to osteosarcoma.

PMID 20805372 2010 A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations.

PMID 21059199 2010 Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome.

PMID 1679237 1991 Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma.

PMID 8164043 1994 Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma.

PMID 12726864 2003 p53 polymorphism influences response in cancer chemotherapy via modulation of p73-dependent apoptosis.

PMID 19930417 2010 Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN.

PMID 2531845 1989 Mutations in the p53 gene occur in diverse human tumour types.

PMID 2554494 1989 p53: a frequent target for genetic abnormalities in lung cancer.

PMID 27276934 2017 The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program.

PMID 20407015 2010 Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation.

PMID 11429705 2001 p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements.

PMID 9364015 1997 Simple identification of dominant p53 mutants by a yeast functional assay.

PMID 9839505 1998 Astrocytoma and B-cell lymphoma development in a man with a p53 germline mutation.

PMID 21232794 2011 A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples.

PMID 1591732 1992 Screening for germ line TP53 mutations in breast cancer patients.

PMID 12885464 2003 A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors.

PMID 7783166 1995 Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining.

PMID 25119136 2014 The p53-reactivating small molecule RITA induces senescence in head and neck cancer cells.

PMID 22052707 2012 TP53 mutations and polymorphisms in primary myelofibrosis.

PMID 1737852 1992 One pedigree was consistent with the Li-Fraumeni syndrome, and bone marrow from both diagnosis and remission indicated a germline G to T transversion at codon 272 (valine to leucine).

PMID 9704930 1998 Characterization of p53 oligomerization domain mutations isolated from Li-Fraumeni and Li-Fraumeni like family members.

PMID 8649785 1996 A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome.

PMID 10864200 2000 P53 germline mutations in childhood cancers and cancer risk for carrier individuals.

PMID 10719737 2000 Distinct prognostic values of p53 mutations and loss of estrogen receptor and their cumulative effect in primary breast cancers.

PMID 16007150 2005 The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library.

PMID 12209975 2002 p53 status correlates with the differential expression of the DNA mismatch repair protein MSH2 in non-small cell lung carcinoma.

PMID 16033918 2006 Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.

PMID 16907706 2006 Geographical variations in TP53 mutational spectrum in ovarian carcinomas.

PMID 23733769 2013 Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors.

PMID 21192060 2011 The current findings demonstrated compellingly that the TP53 R337H mutation is associated not only with ACT but also with CPC and, to a lesser extent, with osteosarcoma, both of which are core-component tumors of the Li-Fraumeni syndrome.

PMID 19717094 2009 Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening?

PMID 19454241 2009 Evaluation of transcriptional activity of p53 in individual living mammalian cells.

PMID 24702488 2015 Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases.

PMID 19101993 2009 Early detection of adrenocortical carcinoma in a child with Li-Fraumeni syndrome.

PMID 20234365 2010 Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status.

PMID 8118819 1994 Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.

PMID 23630318 2013 Small molecule induced reactivation of mutant p53 in cancer cells.

PMID 19556618 2009 High frequency of de novo mutations in Li-Fraumeni syndrome.

PMID 22923379 2012 Rapid profiling of disease alleles using a tunable reporter of protein misfolding.

PMID 15977174 2005 The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA from related patients with Li-Fraumeni syndrome (LFS) who died after developing clinically aggressive tumors.

PMID 15037740 2004 A global suppressor motif for p53 cancer mutants.

PMID 18307025 2008 Genetic analysis revealed a germline missense mutation in the p53 gene (c.659 A > G), resulting in Y220C, which has been reported in three families with LFS.

PMID 10432928 1999 Germ-line TP53 mutations in Finnish cancer families exhibiting features of the Li-Fraumeni syndrome and negative for BRCA1 and BRCA2.

PMID 10589545 1999 Germline mutations of p53 but not p16/CDKN2 or PTEN/MMAC1 tumor suppressor genes predispose to gliomas. The ANOCEF Group. Association des NeuroOncologues d'Expression Française.

PMID 17015838 2006 Structural basis for understanding oncogenic p53 mutations and designing rescue drugs.

PMID 9662334 1998 Transcriptional regulation of the c-H-ras1 gene by the P53 protein is implicated in the development of human endometrial and ovarian tumours.

PMID 8479749 1993 Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings.

PMID 24677579 2014 Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy.

PMID 7969167 1994 Distinct residues of human p53 implicated in binding to DNA, simian virus 40 large T antigen, 53BP1, and 53BP2.

PMID 21535297 2011 "Apparently ""BRCA-related"" breast and ovarian cancer patient with germline TP53 mutation."

PMID 17540308 2007 EGFR-mutant lung adenocarcinoma in a patient with Li-Fraumeni syndrome.

PMID 2826609 1988 Severe, progressive herpetic whitlow caused by an acyclovir-resistant virus in a patient with AIDS.

PMID 20693561 2011 Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li--Fraumeni syndrome.

PMID 9067756 1997 Three germline mutations in the TP53 gene.

PMID 23255406 2013 Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing.

PMID 27726232 2017 Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations.

PMID 25927356 2015 Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing.

PMID 24573247 2014 Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations.

PMID 8062826 1994 Analysis of the most representative tumour-derived p53 mutants reveals that changes in protein conformation are not correlated with loss of transactivation or inhibition of cell proliferation.

PMID 20516128 2010 The tumor suppressor p53: from structures to drug discovery.

PMID 16401470 2006 Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome.

PMID 23263379 2013 p53 mutations in cancer.

PMID 15607981 2004 Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome.

PMID 23792586 2013 A common p53 mutation (R175H) activates c-Met receptor tyrosine kinase to enhance tumor cell invasion.

PMID 12007217 2002 The IARC TP53 database: new online mutation analysis and recommendations to users.

PMID 15607980 2004 Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome.

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

PMID 9546439 1998 Identification of human p53 mutations with differential effects on the bax and p21 promoters using functional assays in yeast.

PMID 11370630 2001 Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.

PMID 25757876 2015 Rapid detection of genetic mutations in individual breast cancer patients by next-generation DNA sequencing.

PMID 18685109 2008 Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.

PMID 26014290 2015 Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.

PMID 23639785 2013 Identification of novel mutations of TP53, ALK and RET gene in metastatic thymic squamous cell carcinoma and its therapeutic implication.

PMID 23409989 2013 Novel p53 splicing site mutation in Li-Fraumeni-like syndrome with osteosarcoma.

PMID 14656244 2003 Novel p53 germline mutation in a patient with Li-Fraumeni syndrome.

PMID 17224268 2007 Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families.

PMID 12725534 2003 Differentially expressed downstream genes in cells with normal or mutated p53.

PMID 26641009 2016 Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia.

PMID 12610779 2003 Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk.

PMID 28475293 2017 Synonymous mutation in TP53 results in a cryptic splice site affecting its DNA-binding site in an adolescent with two primary sarcomas.

PMID 24630730 2014 Synonymous mutations frequently act as driver mutations in human cancers.

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 23031740 2012 Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: increased expression of a CD44 variant isoform after chemotherapy.

PMID 16312222 2005 Evaluation of arrayed primer extension for TP53 mutation detection in breast and ovarian carcinomas.

PMID 26585234 2015 Specific TP53 Mutants Overrepresented in Ovarian Cancer Impact CNV, TP53 Activity, Responses to Nutlin-3a, and Cell Survival.

PMID 19468865 2009 TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.

PMID 22672556 2012 Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature.

PMID 24835218 2014 Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib.

PMID 24122735 2013 Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.

PMID 26205489 2015 Regulation of the p53 response and its relationship to cancer.

PMID 27621308 2016 Acute myeloid leukemia with TP53 germ line mutations.

PMID 26225655 2015 Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers.

PMID 7565304 1995 p53 gene mutations in pediatric brain tumors.

PMID 12885464 2003 We identified a missense germline mutation (Gly245Ser) in one of the mutation hot spots of the TP53 gene in two affected members of a Li-Fraumeni syndrome family.

PMID 23406775 2013 Establishment and characterization of the first pediatric adrenocortical carcinoma xenograft model identifies topotecan as a potential chemotherapeutic agent.

PMID 9218725 1997 Li-Fraumeni syndrome--a molecular and clinical review.

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

PMID 8550239 1995 Incidence of germ-line p53 mutations in patients with gliomas.

PMID 15951970 2005 The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds.

PMID 15722483 2005 Mutant p53 proteins bind DNA in a DNA structure-selective mode.

PMID 17311302 2007 Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database.

PMID 15925506 2005 Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations.

PMID 10519380 1999 Dominant-negative mutations of the tumor suppressor p53 relating to early onset of glioblastoma multiforme.

PMID 21484931 2011 Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years.

PMID 17636407 2007 p53 dominant-negative mutant R273H promotes invasion and migration of human endometrial cancer HHUA cells.

PMID 22899716 2012 Mutant p53R273H attenuates the expression of phase 2 detoxifying enzymes and promotes the survival of cells with high levels of reactive oxygen species.

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

PMID 15390294 2004 Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation.

PMID 7732013 1995 A simple p53 functional assay for screening cell lines, blood, and tumors.

PMID 19881536 2010 A common gain of function of p53 cancer mutants in inducing genetic instability.

PMID 9047394 1997 A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li-Fraumeni patients carrying a mutation to the TP53 gene.

PMID 27374712 2016 Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome.

PMID 20689556 2011 Mutant p53(R175H) upregulates Twist1 expression and promotes epithelial-mesenchymal transition in immortalized prostate cells.

PMID 28349240 2017 The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.

PMID 23625637 2013 Serine substitution of proline at codon 151 of TP53 confers gain of function activity leading to anoikis resistance and tumor progression of head and neck cancer cells.

PMID 7881428 1994 A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors.

PMID 10713666 2000 Quantitative analysis of residual folding and DNA binding in mutant p53 core domain: definition of mutant states for rescue in cancer therapy.

PMID 25226867 2015 Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome.

PMID 10064694 1999 p53 mutants without a functional tetramerisation domain are not oncogenic.

PMID 19806023 2009 Characterization of a new cancer-associated mutant of p53 with a missense mutation (K351N) in the tetramerization domain.

PMID 9766574 1998 Characterization of p53 mutants identified in human tumors with a missense mutation in the tetramerization domain.

PMID 25981898 2015 TP53 germline mutation may affect response to anticancer treatments: analysis of an intensively treated Li-Fraumeni family.

PMID 20978130 2011 Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation.

PMID 19714490 2009 The germline mutation, R342X (16915C>T), and the novel mutation, R342P (16916G>C), were found in a child with adrenocortical carcinoma and in a LFS pediatric patient with multiple primaries.

PMID 23175693 2013 Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma.

PMID 26000489 2015 Integrative clinical genomics of advanced prostate cancer.

PMID 24797764 2014 ERBB2 gene as a potential therapeutic target in small bowel adenocarcinoma.

PMID 27101868 2016 TP53 hotspot mutations are predictive of survival in primary central nervous system lymphoma patients treated with combination chemotherapy.

PMID 7981076 1994 Alteration of p53 gene in ovarian carcinoma: clinicopathological correlation and prognostic significance.

PMID 1581912 1992 Inherited p53 gene mutations in breast cancer.

PMID 8102535 1993 Prognostic significance of TP53 alterations in breast carcinoma.

PMID 15580553 2005 Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations.

PMID 8308926 1994 Germline p53 gene mutations in subsets of glioma patients.

PMID 27496084 2016 Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort.

PMID 11479205 2001 p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition.

PMID 7978053 1994 Novel germline mutation of the p53 tumor suppressor gene in a child with incidentally discovered adrenal cortical carcinoma.

PMID 17567834 2007 Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age.

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

PMID 21225465 2011 Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53.

PMID 8134126 1994 Predominantly tumor-limited expression of a mutant allele in a Japanese family carrying a germline p53 mutation.

PMID 16534790 2007 Recognition of Li Fraumeni syndrome at diagnosis of a locally advanced extremity rhabdomyosarcoma.

PMID 21626334 2011 Pleomorphic carcinoma of the lung arising in a patient with Li-Fraumeni syndrome: report of a case.

PMID 10486318 1999 Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors.

PMID 22203015 2012 Clinical impact of TP53 alterations in adrenocortical carcinomas.

PMID 9301461 1997 The status of p53 in the metastatic progression of colorectal cancer.

PMID 8887616 1996 Detection of p53 gene mutations in cytopathology and biopsy specimens from patients with lung cancer.

PMID 11420676 2001 Characterization of germline TP53 splicing mutations and their genetic and functional analysis.

PMID 26534844 2016 Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

PMID 1918170 1991 Transforming activity of mutant human p53 alleles.

PMID 8075648 1994 Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations.

PMID 23484829 2013 Increased oxidative metabolism in the Li-Fraumeni syndrome.

PMID 22170717 2012 TP53 germline mutations in adult patients with adrenocortical carcinoma.

PMID 9681828 1998 Genetic and functional studies of a germline TP53 splicing mutation in a Li-Fraumeni-like family.

PMID 25945745 2015 DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations.

PMID 21348412 2010 Genetic testing and prevention of hereditary cancer at the MMCI--over 10 years of experience.

PMID 1467311 1992 Germ-line splicing mutation of the p53 gene in a cancer-prone family.

PMID 16736287 2006 Late-onset common cancers in a kindred with an Arg213Gln TP53 germline mutation.

PMID 18208484 2008 Choroid plexus carcinoma: a new case associated with a novel TP53 germ line mutation.

PMID 23259501 2012 Number of rare germline CNVs and TP53 mutation types.

PMID 17541742 2008 Within a series of BRCA1 and BRCA2 mutation-negative families, a germline TP53 13398 G>A (Arg213Gln) mutation was identified, which was selected for mutation analysis in this gene because of a family history consistent with Li-Fraumeni syndrome (LFS).

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

PMID 24384472 2014 The impact of R213 mutation on p53-mediated p21 activity.

PMID 8080050 1994 Gain-of-function mutations of the p53 gene induce lymphohematopoietic metastatic potential and tissue invasiveness.

PMID 7707106 1995 Clinical significance of p53 mutations in newly diagnosed Burkitt's lymphoma and acute lymphoblastic leukemia: a report of 48 cases.

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

PMID 25433984 2015 EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: report of two cases and review of the literature.

PMID 17530187 2007 The over-expression of p53 H179Y residue mutation causes the increase of cyclin A1 and Cdk4 expression in HELF cells.

PMID 11896595 2002 Tumour p53 mutations exhibit promoter selective dominance over wild type p53.

PMID 26497680 2015 Mutant p53 confers chemoresistance in non-small cell lung cancer by upregulating Nrf2.

PMID 12509279 2002 A novel p53 mutant retained functional activity in lung carcinomas.

PMID 16633321 2006 [Germline tp53 neomutation in a patient with Li-Fraumeni syndrome and pancreatic adenocarcinoma].

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

PMID 11358831 2001 TP53 mutations in breast cancer associated with BRCA1 or BRCA2 germ-line mutations: distinctive spectrum and structural distribution.

PMID 12695689 2003 Leukemic and non-leukemic lymphocytes from patients with Li Fraumeni syndrome demonstrate loss of p53 function, Bcl-2 family dysregulation and intrinsic resistance to conventional chemotherapeutic drugs but not flavopiridol.

PMID 10229196 1999 Novel p53 mutants selected in BRCA-associated tumours which dissociate transformation suppression from other wild-type p53 functions.

PMID 24256616 2013 Identification of new p53 target microRNAs by bioinformatics and functional analysis.

PMID 17390010 2007 Oncogenic mutation of the p53 gene derived from head and neck cancer prevents cells from undergoing apoptosis after DNA damage.

PMID 25293557 2015 Germline TP53 mutations is common in patients with two early-onset primary malignancies.

PMID 17572079 2007 Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline 'de-novo' TP53 mutation.

PMID 20932800 2010 p53 post-translational modification: deregulated in tumorigenesis.

PMID 20967502 2011 Inherited germline TP53 mutation encodes a protein with an aberrant C-terminal motif in a case of pediatric adrenocortical tumor.

PMID 19756158 2009 Predicting positive p53 cancer rescue regions using Most Informative Positive (MIP) active learning.

PMID 17308077 2007 Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome.

PMID 25234657 2014 Tongue carcinoma infrequently harbor common actionable genetic alterations.

PMID 24764719 2014 Lack of toxicity in a patient with germline TP53 mutation treated with radiotherapy.

PMID 25741868 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

PMID 21339461 2011 Multiple primary cutaneous melanomas in Li-Fraumeni syndrome.

PMID 20455025 2010 One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history comprised of a paternal aunt with GBM at age 55, carried the p53 R158H mutation, which is predicted to be functional and has previously been implicated as a cause of Li-Fraumeni syndrome.

PMID 9704931 1998 Characterization of the oligomerization defects of two p53 mutants found in families with Li-Fraumeni and Li-Fraumeni-like syndrome.

PMID 9150393 1997 Two functional assays employed to detect an unusual mutation in the oligomerisation domain of p53 in a Li-Fraumeni like family.

PMID 27866339 2017 Recurrent TP53 missense mutation in cancer patients of Arab descent.

PMID 28486781 2017 Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.

PMID 20471942 2010 DNA binding cooperativity of p53 modulates the decision between cell-cycle arrest and apoptosis.

PMID 12067251 2002 Reactive oxygen species generated by PAH o-quinones cause change-in-function mutations in p53.

PMID 26086041 2015 Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry.

PMID 21934104 2011 Familial pediatric endocrine tumors.

PMID 15654279 2005 Successful treatment of an unresectable choroid plexus carcinoma in a patient with Li-Fraumeni syndrome.

PMID 7966399 1994 High frequency of germline p53 mutations in childhood adrenocortical cancer.

PMID 16337994 2006 Mutational analysis of TP53 and p21 in familial and sporadic ovarian cancer in Japan.

PMID 20878954 2011 The plasmacytoid carcinoma of the bladder--rare variant of aggressive urothelial carcinoma.

PMID 16818505 2006 Functional analysis and molecular modeling show a preserved wild-type activity of p53(C238Y).

PMID 21115975 2011 DNA damage-induced transcriptional program in CLL: biological and diagnostic implications for functional p53 testing.

PMID 24590827 2014 TP53 and p53 statuses and their clinical impact in diffuse low grade gliomas.

PMID 14673037 2003 TP53, BRCA1, and BRCA2 tumor suppressor genes are not commonly mutated in survivors of Hodgkin's disease with second primary neoplasms.

PMID 25634208 2015 Evolutionary Action Score of TP53 Identifies High-Risk Mutations Associated with Decreased Survival and Increased Distant Metastases in Head and Neck Cancer.

PMID 22866089 2011 TP53 genetic alterations in Arab breast cancer patients: Novel mutations, pattern and distribution.

PMID 25504633 2015 Wee-1 kinase inhibition overcomes cisplatin resistance associated with high-risk TP53 mutations in head and neck cancer through mitotic arrest followed by senescence.

PMID 27179933 2016 Strong synergy with APR-246 and DNA-damaging drugs in primary cancer cells from patients with TP53 mutant High-Grade Serous ovarian cancer.

PMID 25691460 2015 Evolutionary Action Score of TP53 Coding Variants Is Predictive of Platinum Response in Head and Neck Cancer Patients.

PMID 26781615 2016 TP53 mutations in older adults with acute myeloid leukemia.

PMID 8023157 1994 Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations.

PMID 28369373 2017 Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

PMID 16969106 2006 Oligomerization of p53 precedes its association with dynein and nuclear accumulation.

PMID 26425688 2015 TP53 Mutational Status and Prediction of Benefit from Adjuvant 5-Fluorouracil in Stage III Colon Cancer Patients.

PMID 19714490 2009 The germline mutation, R342X (16915C>T), and the novel mutation, R342P (16916G>C), were found in a child with adrenocortical carcinoma and in a LFS pediatric patient with multiple primaries.

PMID 21665182 2011 Increased sperm aneuploidy in two male carriers of germline TP53 mutations.

PMID 20436704 2010 TP53 mutations in Korean patients with non-small cell lung cancer.

PMID 19711436 2009 De novo germline TP53 mutation presenting with synchronous malignancies of the central nervous system.

PMID 26718964 2016 Complex analysis of the p53 tumor suppressor in lung carcinoma.

PMID 22178617 2012 p53 requires an intact C-terminal domain for DNA binding and transactivation.

PMID 25794615 2015 The p53 C terminus controls site-specific DNA binding and promotes structural changes within the central DNA binding domain.

PMID 12700230 2003 Kinetic instability of p53 core domain mutants: implications for rescue by small molecules.

PMID 19405127 2009 Identification and characterization of a novel germline p53 mutation in a patient with glioblastoma and colon cancer.

PMID 19850740 2009 Monoallelic and biallelic inactivation of TP53 gene in chronic lymphocytic leukemia: selection, impact on survival, and response to DNA damage.

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

PMID 25503501 2015 Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

PMID 20308654 2010 TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors.

PMID 22265402 2012 Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations.

PMID 9627118 1998 Human tumor-derived p53 proteins exhibit binding site selectivity and temperature sensitivity for transactivation in a yeast-based assay.

PMID 25587027 2014 The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias.

PMID 25544776 2015 The anti-leukemic activity of sodium dichloroacetate in p53mutatednull cells is mediated by a p53-independent ILF3p21 pathway.

PMID 29070607 2018 Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.

PMID 9572492 1998 p53 mutations isolated in yeast based on loss of transcription factor activity: similarities and differences from p53 mutations detected in human tumors.

PMID 14584079 2003 Familial sarcoma: challenging pedigrees.

PMID 22710932 2012 Transactivation and reactivation capabilities of temperature-dependent p53 mutants in yeast and human cells.

PMID 9525742 1998 A transforming p53 mutant, which binds DNA, transactivates and induces apoptosis reveals a nuclear:cytoplasmic shuttling defect.

PMID 10871862 2000 Identification of a tumor-derived p53 mutant with novel transactivating selectivity.

PMID 25122428 2014 Therapeutic priority of the PI3K/AKT/mTOR pathway in small cell lung cancers as revealed by a comprehensive genomic analysis.

PMID 22187033 2012 High frequency of complex TP53 mutations in CNS metastases from breast cancer.

PMID 22551440 2012 Prognostic and predictive value of TP53 mutations in node-positive breast cancer patients treated with anthracycline- or anthracycline/taxane-based adjuvant therapy: results from the BIG 02-98 phase III trial.

PMID 27150160 2016 Morphologic correlates of molecular alterations in extrauterine Müllerian carcinomas.

PMID 29752822 2019 Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.

PMID 21514416 2011 Tissue microarray cytometry reveals positive impact of homeodomain interacting protein kinase 2 in colon cancer survival irrespective of p53 function.

PMID 14559903 2004 Isolation of temperature-sensitive p53 mutations from a comprehensive missense mutation library.

PMID 16474844 2006 Tumor suppressor p53 regulates heparanase gene expression.

PMID 9407971 1997 Abrogation of wild-type p53-mediated transactivation is insufficient for mutant p53-induced immortalization of normal human mammary epithelial cells.

PMID 23967324 2013 Clinical relevance of gain-of-function mutations of p53 in high-grade serous ovarian carcinoma.

PMID 26230955 2015 TP53 mutations in de novo acute myeloid leukemia patients: longitudinal follow-ups show the mutation is stable during disease evolution.

PMID 22540896 2012 A prognostic signature of defective p53-dependent G1 checkpoint function in melanoma cell lines.

PMID 16209708 2005 Telomerase expression is sufficient for chromosomal integrity in cells lacking p53 dependent G1 checkpoint function.

PMID 24814347 2014 The DNA-binding domain mediates both nuclear and cytosolic functions of p53.

rs1057519747 in TP53 gene and Liver carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 15004724 2004 Mutant p53 expression enhances drug resistance in a hepatocellular carcinoma cell line.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs1057520002 in TP53 gene and Lymphoma, Non-Hodgkin, Familial PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs11540652 in TP53 gene and MYELODYSPLASTIC SYNDROME PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519747 in TP53 gene and Malignant Uterine Corpus Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519747 in TP53 gene and Mammary Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 16489069 2006 The clinical value of somatic TP53 gene mutations in 1,794 patients with breast cancer.

PMID 9569050 1998 Mutations in residues of TP53 that directly contact DNA predict poor outcome in human primary breast cancer.

rs11540652 in TP53 gene and Medulloblastoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519977 in TP53 gene and Multiple Myeloma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs587781525 in TP53 gene and NEUROBLASTOMA, SUSCEPTIBILITY TO PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121912660 in TP53 gene and Nasopharyngeal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs11540652 in TP53 gene and Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 24651012 2014 Mutant p53 in cancer: new functions and therapeutic opportunities.

PMID 17015838 2006 Structural basis for understanding oncogenic p53 mutations and designing rescue drugs.

PMID 11101847 2000 Role of the p53-homologue p73 in E2F1-induced apoptosis.

PMID 18391940 2008 p53 regulates glucose metabolism through an IKK-NF-kappaB pathway and inhibits cell transformation.

rs1019340046 in TP53 gene and Neoplastic Syndromes, Hereditary PMID 8633021 1996 Dominant-negative p53 mutations selected in yeast hit cancer hot spots.

PMID 16861262 2007 Inactive full-length p53 mutants lacking dominant wild-type p53 inhibition highlight loss of heterozygosity as an important aspect of p53 status in human cancers.

PMID 12826609 2003 Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.

PMID 19652052 2009 2009 version of the Chompret criteria for Li Fraumeni syndrome.

PMID 23484829 2013 Increased oxidative metabolism in the Li-Fraumeni syndrome.

PMID 8639798 1996 The p53 gene in pediatric therapy-related leukemia and myelodysplasia.

PMID 20593220 2011 MGMT promoter hypermethylation is a frequent, early, and consistent event in astrocytoma progression, and not correlated with TP53 mutation.

PMID 18555592 2008 Presence of dominant negative mutation of TP53 is a risk of early recurrence in oral cancer.

PMID 24744791 2014 Patterns and Biologic Features of p53 Mutation Types in Korean Breast Cancer Patients.

PMID 27458004 2016 Targeted sequencing of refractory myeloma reveals a high incidence of mutations in CRBN and Ras pathway genes.

PMID 21343334 2011 Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.

PMID 27730344 2017 Expression of circulating miRNAs associated with lymphocyte differentiation and activation in CLL-another piece in the puzzle.

PMID 9472631 1998 Effects of p53 mutants derived from lung carcinomas on the p53-responsive element (p53RE) of the MDM2 gene.

PMID 27149858 2016 Lenalidomide normalizes tumor vessels in colorectal cancer improving chemotherapy activity.

PMID 7732013 1995 A simple p53 functional assay for screening cell lines, blood, and tumors.

PMID 10589545 1999 Germline mutations of p53 but not p16/CDKN2 or PTEN/MMAC1 tumor suppressor genes predispose to gliomas. The ANOCEF Group. Association des NeuroOncologues d'Expression Française.

PMID 17606709 2007 Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

PMID 15925506 2005 Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations.

PMID 11793474 2002 Integrating mutation data and structural analysis of the TP53 tumor-suppressor protein.

PMID 12406399 2002 [Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome. Genetic counselling to healthy mutation carriers].

PMID 26818906 2016 Genetic and functional analysis of a Li Fraumeni syndrome family in China.

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

PMID 25925845 2015 Germline TP53 mutational spectrum in French Canadians with breast cancer.

PMID 11896595 2002 Tumour p53 mutations exhibit promoter selective dominance over wild type p53.

PMID 26628864 2015 Using a family history questionnaire to identify adult patients with increased genetic risk for sarcoma.

PMID 20407015 2010 Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation.

PMID 11920959 2002 Complex functions of mutant p53 alleles from human prostate cancer.

PMID 20522432 2010 TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.

PMID 9546439 1998 Identification of human p53 mutations with differential effects on the bax and p21 promoters using functional assays in yeast.

PMID 9290701 1997 Screening the p53 status of human cell lines using a yeast functional assay.

PMID 10761705 2000 p53 status in multiple human urothelial cancers: assessment for clonality by the yeast p53 functional assay in combination with p53 immunohistochemistry.

PMID 20118236 2010 Wild-type and Hupki (human p53 knock-in) murine embryonic fibroblasts: p53/ARF pathway disruption in spontaneous escape from senescence.

PMID 11429705 2001 p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements.

PMID 10753186 2000 High frequency in esophageal cancers of p53 alterations inactivating the regulation of genes involved in cell cycle and apoptosis.

PMID 10366100 1999 Dominant-negative p53 mutations in rheumatoid arthritis.

PMID 22425896 2012 Non-nodal type of mantle cell lymphoma is a specific biological and clinical subgroup of the disease.

PMID 17724467 2008 Analysis of transactivation capability and conformation of p53 temperature-dependent mutants and their reactivation by amifostine in yeast.

PMID 15381368 2004 Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin.

PMID 11313981 2001 p53 mutants exhibiting enhanced transcriptional activation and altered promoter selectivity are revealed using a sensitive, yeast-based functional assay.

PMID 16508005 2006 The biological impact of the human master regulator p53 can be altered by mutations that change the spectrum and expression of its target genes.

PMID 12917626 2003 Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay.

PMID 19001415 2009 Monocytic leukemia zinc finger (MOZ) interacts with p53 to induce p21 expression and cell-cycle arrest.

PMID 23894400 2013 High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort.

PMID 21345075 2011 Multiple malignancies in a child with de novo TP53 mutation.

PMID 26094658 2015 Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.

PMID 24814347 2014 The DNA-binding domain mediates both nuclear and cytosolic functions of p53.

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

PMID 28961279 2017 The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.

PMID 22507745 2012 Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.

PMID 10987134 2000 The p53 mutation which abrogates trans-activation while maintaining its growth-suppression activity.

PMID 18762572 2008 Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma.

PMID 14559903 2004 Isolation of temperature-sensitive p53 mutations from a comprehensive missense mutation library.

PMID 10697617 2000 Two cases of osteosarcoma occurring as second malignancy of childhood cancer.

PMID 20017945 2009 Identification of a novel germ-line mutation in the TP53 gene in a Mexican family with Li-Fraumeni syndrome.

PMID 24198462 2009 Specific mutation screening of TP53 gene by low-density DNA microarray.

PMID 8023157 1994 Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations.

PMID 23359294 2013 Only missense mutations affecting the DNA binding domain of p53 influence outcomes in patients with breast carcinoma.

PMID 19367287 2009 TP53 mutations predict disease control in metastatic colorectal cancer treated with cetuximab-based chemotherapy.

PMID 15541116 2004 A modified yeast assay used on archival samples of localized prostate cancer tissue improves the detection of p53 abnormalities and increases their predictive value.

PMID 23981578 2014 Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome.

PMID 26822237 2016 Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

PMID 19834951 2010 The Li-Fraumeni syndrome (LFS): a model for the initiation of p53 signatures in the distal Fallopian tube.

PMID 21761402 2012 Early onset HER2-positive breast cancer is associated with germline TP53 mutations.

PMID 24382691 2014 Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers.

PMID 20198344 2010 Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage.

PMID 20364130 2010 Diversity in DNA recognition by p53 revealed by crystal structures with Hoogsteen base pairs.

PMID 18489080 2008 The pattern of p53 mutations caused by PAH o-quinones is driven by 8-oxo-dGuo formation while the spectrum of mutations is determined by biological selection for dominance.

PMID 10980596 2000 Novel p53 splice site mutations in three families with Li-Fraumeni syndrome.

PMID 19127094 2008 A novel TP53 germline mutation in a family with a history of multiple malignancies: case report and review of the literature.

PMID 22187033 2012 High frequency of complex TP53 mutations in CNS metastases from breast cancer.

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 19759556 2010 TP53 mutations in myeloid malignancies are either homozygous or hemizygous due to copy number-neutral loss of heterozygosity or deletion of 17p.

PMID 26900293 2016 Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients.

PMID 26876197 2016 Heterozygous p53(V172F) mutation in cisplatin-resistant human tumor cells promotes MDM4 recruitment and decreases stability and transactivity of p53.

PMID 19581934 2009 Impaired p53 binding to importin: a novel mechanism of cytoplasmic sequestration identified in oxaliplatin-resistant cells.

PMID 15781632 2005 CDK4 and MDM2 gene alterations mainly occur in highly proliferative and aggressive mantle cell lymphomas with wild-type INK4a/ARF locus.

PMID 11715068 2001 The timing and characterization of p53 mutations in progression from atypical ductal hyperplasia to invasive lesions in the breast cancer.

PMID 27683180 2017 Somatic and Germline TP53 Alterations in Second Malignant Neoplasms from Pediatric Cancer Survivors.

PMID 16760300 2006 Novel P53 mutations detected by FAMA in colorectal cancers.

PMID 9667734 1998 Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning.

PMID 11051239 2000 Heterogeneity in the clinical phenotype of TP53 mutations in breast cancer patients.

PMID 24729566 2014 Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era.

PMID 21552135 2011 Gastric cancer in individuals with Li-Fraumeni syndrome.

PMID 17224074 2007 Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomas.

PMID 24076587 2014 Mapping the p53 transcriptome universe using p53 natural polymorphs.

PMID 23580068 2013 Prevalence of germline TP53 mutations in HER2+ breast cancer patients.

PMID 22653678 2012 Prevalence of germline TP53 mutations and history of Li-Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: a population-based survey.

PMID 29324801 2018 Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark.

PMID 29025599 2017 Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma.

PMID 27374712 2016 Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome.

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

PMID 8527048 1995 The first documentation of Li-Fraumeni syndrome in Korea.

PMID 28472496 2017 Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

PMID 24651015 2014 Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition.

PMID 24573247 2014 Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations.

PMID 24038938 2014 Association of TP53 polymorphisms on the risk of Wilms tumor.

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

PMID 1978757 1990 Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.

PMID 19378321 2009 Novel oncogene amplifications in tumors from a family with Li-Fraumeni syndrome.

PMID 22265402 2012 Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations.

PMID 20128691 2010 Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation.

PMID 23172776 2013 Drastic effect of germline TP53 missense mutations in Li-Fraumeni patients.

PMID 15308588 2004 Clinical implications of p53 mutation analysis in bladder cancer tissue and urine sediment by functional assay in yeast.

PMID 10557074 1999 Cells with TP53 mutations in low grade astrocytic tumors evolve clonally to malignancy and are an unfavorable prognostic factor.

PMID 15077194 2004 Tumor-derived p53 mutants induce oncogenesis by transactivating growth-promoting genes.

PMID 21561095 2011 Structural effects of the L145Q, V157F, and R282W cancer-associated mutations in the p53 DNA-binding core domain.

PMID 16778209 2006 Mutant p53 induces the GEF-H1 oncogene, a guanine nucleotide exchange factor-H1 for RhoA, resulting in accelerated cell proliferation in tumor cells.

PMID 11590071 2001 Loss of MDM2 expression in human head and neck squamous cell carcinomas and clinical significance.

PMID 15161705 2004 Rapid and sensitive p53 alteration analysis in biopsies from lung cancer patients using a functional assay and a universal oligonucleotide array: a prospective study.

PMID 12779080 2003 Comparison of p53 mutational status with mRNA and protein expression in a panel of 24 human breast carcinoma cell lines.

PMID 10754498 2000 Clinical significance of p53 functional loss in squamous cell carcinoma of the oropharynx.

PMID 15037740 2004 A global suppressor motif for p53 cancer mutants.

PMID 7791795 1995 Role of cysteine residues in regulation of p53 function.

PMID 2259385 1991 Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome.

PMID 1737852 1992 Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.

PMID 24700732 2014 Analysis of TP53 mutation status in human cancer cell lines: a reassessment.

PMID 23334668 2013 The genomic landscape of hypodiploid acute lymphoblastic leukemia.

PMID 16494995 2007 The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.

PMID 27081505 2014 Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population.

PMID 11753428 2002 A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer.

PMID 11481490 2001 An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma.

PMID 19877175 2010 Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.

PMID 16007150 2005 The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library.

PMID 23570263 2013 TP53 p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient.

PMID 25736369 2015 Prevalence of an inherited cancer predisposition syndrome associated with the germ line TP53 R337H mutation in Paraguay.

PMID 11254385 2001 Structure and functionality of a designed p53 dimer.

PMID 27714481 2017 TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes.

PMID 26681051 2015 R337H mutation of the TP53 gene as a clinical marker in cancer patients: a systematic review of literature.

PMID 27553368 2016 Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.

PMID 24936644 2014 We have assessed the prevalence of p.R337H in two groups: (1) 59 BC affected women with a familial history (FH) suggestive of hereditary cancer syndrome but no LFS/LFL features; (2) 815 BC affected women unselected for cancer FH, diagnosed with BC at or before age 45 or at age 55 or older.

PMID 18248785 2008 Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil.

PMID 26823150 2016 Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome.

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

PMID 25945745 2015 DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations.

PMID 20978130 2011 Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation.

PMID 20028212 2010 p53+/mdm2- atypical lipomatous tumor/well-differentiated liposarcoma in young children: an early expression of Li-Fraumeni syndrome.

PMID 24395441 2014 Protective effect of the Y220C mutant p53 against steatosis: good news?

PMID 23315175 2013 Effect of Y220C mutation on p53 and its rescue mechanism: a computer chemistry approach.

PMID 25339994 2014 Oncomorphic TP53 Mutations in Gynecologic Cancers Lose the Normal Protein:Protein Interactions with the microRNA Microprocessing Complex.

PMID 27724982 2016 TP53 gene mutation analysis in chronic lymphocytic leukemia by nanopore MinION sequencing.

PMID 21535297 2011 "Apparently ""BRCA-related"" breast and ovarian cancer patient with germline TP53 mutation."

PMID 24677579 2014 Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy.

PMID 8164043 1994 Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma.

PMID 15017592 2004 Loss of p53 transcriptional activity in hepatocellular carcinoma evaluated by yeast-based functional assay: comparison with p53 immunohistochemistry.

PMID 8479749 1993 Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings.

PMID 23255406 2013 Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing.

PMID 24371653 2012 Novel TP53 gene mutation and correlation with p53 immunohistochemistry in a mixed epithelial carcinoma of the endometrium.

PMID 27726232 2017 Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations.

PMID 9067756 1997 Three germline mutations in the TP53 gene.

PMID 11370630 2001 Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.

PMID 25927356 2015 Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing.

PMID 26024390 2015 TP53: an oncogene in disguise.

PMID 8062826 1994 Analysis of the most representative tumour-derived p53 mutants reveals that changes in protein conformation are not correlated with loss of transactivation or inhibition of cell proliferation.

PMID 10567903 1999 Prognostic significance of p53 mutation in breast cancer: frequent detection of non-missense mutations by yeast functional assay.

PMID 25123297 2015 Tumor genome analysis includes germline genome: are we ready for surprises?

PMID 21601526 2011 Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.

PMID 12619103 2003 The UMD-p53 database: new mutations and analysis tools.

PMID 25584637 2015 Oxidation of p53 through DNA charge transport involves a network of disulfides within the DNA-binding domain.

PMID 7887414 1995 Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.

PMID 26014290 2015 Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.

PMID 9115587 1997 Reappraisal of p53 mutations in human malignant astrocytic neoplasms by p53 functional assay: comparison with conventional structural analyses.

PMID 10519380 1999 Dominant-negative mutations of the tumor suppressor p53 relating to early onset of glioblastoma multiforme.

PMID 19468865 2009 TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.

PMID 20505364 2010 Transactivation by temperature-dependent p53 mutants in yeast and human cells.

PMID 22198284 2012 p53 mutants induce transcription of NF-κB2 in H1299 cells through CBP and STAT binding on the NF-κB2 promoter and gain of function activity.

PMID 21305319 2011 Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome.

PMID 12610779 2003 Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk.

PMID 24630730 2014 Synonymous mutations frequently act as driver mutations in human cancers.

PMID 28026089 2017 Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications.

PMID 19930417 2010 Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN.

PMID 19556618 2009 High frequency of de novo mutations in Li-Fraumeni syndrome.

PMID 22887876 2012 The germline TP53 mutation c.722 C>T promotes bone and liver tumorigenesis at a young age.

PMID 27189670 2016 Assessing mutant p53 in primary high-grade serous ovarian cancer using immunohistochemistry and massively parallel sequencing.

PMID 1565143 1992 Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.

PMID 15850016 2005 Primary orbital liposarcoma in Li-Fraumeni cancer family syndrome: a case report.

PMID 27077130 2016 Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

PMID 21059199 2010 Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome.

PMID 10864200 2000 P53 germline mutations in childhood cancers and cancer risk for carrier individuals.

PMID 22672556 2012 Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature.

PMID 12885464 2003 A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors.

PMID 10922393 2000 Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families.

PMID 1591732 1992 Screening for germ line TP53 mutations in breast cancer patients.

PMID 18511570 2008 Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.

PMID 16401470 2006 Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome.

PMID 9364015 1997 Simple identification of dominant p53 mutants by a yeast functional assay.

PMID 16551709 2006 Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer.

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 26641009 2016 Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia.

PMID 8550239 1995 Incidence of germ-line p53 mutations in patients with gliomas.

PMID 9242456 1997 Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.

PMID 7783166 1995 Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining.

PMID 24835218 2014 Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib.

PMID 29263802 2016 Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.

PMID 23538418 2013 Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis.

PMID 24122735 2013 Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.

PMID 15951970 2005 The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds.

PMID 27621308 2016 Acute myeloid leukemia with TP53 germ line mutations.

PMID 28453743 2017 Targeted next-generation sequencing of pediatric neuro-oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy.

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

PMID 27516001 2016 Multiple primary tumors in a family with Li-Fraumeni syndrome with a TP53 germline mutation identified by next-generation sequencing.

PMID 8825920 1995 An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.

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 19127115 2008 Genetic counseling can influence the course of a suspected familial cancer syndrome patient: from a case of Li-Fraumeni like syndrome with a germline mutation in the TP53 gene.

PMID 23792586 2013 A common p53 mutation (R175H) activates c-Met receptor tyrosine kinase to enhance tumor cell invasion.

PMID 23263379 2013 p53 mutations in cancer.

PMID 22233476 2012 Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations.

PMID 16707427 2006 Identification of a novel germ line variant hotspot mutant p53-R175L in pediatric adrenal cortical carcinoma.

PMID 7799951 1995 Spontaneous in vitro immortalization of breast epithelial cells from a patient with Li-Fraumeni syndrome.

PMID 21311097 2010 A molecular signature of normal breast epithelial and stromal cells from Li-Fraumeni syndrome mutation carriers.

PMID 1933902 1991 A germ line mutation in exon 5 of the p53 gene in an extended cancer family.

PMID 1686725 1991 TP53 gene mutations and 17p deletions in human astrocytomas.

PMID 11479205 2001 p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition.

PMID 25503501 2015 Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

PMID 23967324 2013 Clinical relevance of gain-of-function mutations of p53 in high-grade serous ovarian carcinoma.

PMID 23625637 2013 Serine substitution of proline at codon 151 of TP53 confers gain of function activity leading to anoikis resistance and tumor progression of head and neck cancer cells.

PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 9525742 1998 A transforming p53 mutant, which binds DNA, transactivates and induces apoptosis reveals a nuclear:cytoplasmic shuttling defect.

PMID 12019170 2002 Initiation of human astrocytoma by clonal evolution of cells with progressive loss of p53 functions in a patient with a 283H TP53 germ-line mutation: evidence for a precursor lesion.

PMID 15580553 2005 Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations.

PMID 25490274 2015 Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.

PMID 17311302 2007 Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database.

PMID 28477317 2018 TP53 germline and somatic mutations in a patient with fibrolamellar hepatocellular carcinoma.

PMID 25184754 2014 Unambiguous detection of multiple TP53 gene mutations in AAN-associated urothelial cancer in Belgium using laser capture microdissection.

PMID 17318340 2007 Two TP53 germline mutations in a classical Li-Fraumeni syndrome family.

PMID 10435620 1999 p53 compound heterozygosity in a severely affected child with Li-Fraumeni syndrome.

PMID 27146902 2016 Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.

PMID 9766574 1998 Characterization of p53 mutants identified in human tumors with a missense mutation in the tetramerization domain.

PMID 25226867 2015 Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome.

PMID 19714490 2009 p53 Tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li-Fraumeni syndrome and a child with adrenocortical carcinoma.

PMID 28767289 2017 Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.

PMID 28772290 2017 Surveillance in Germline TP53 Mutation Carriers Utilizing Whole-Body Magnetic Resonance Imaging.

PMID 23175693 2013 Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma.

PMID 1631137 1992 Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein.

PMID 8675009 1996 The XPB and XPD DNA helicases are components of the p53-mediated apoptosis pathway.

PMID 20471942 2010 DNA binding cooperativity of p53 modulates the decision between cell-cycle arrest and apoptosis.

PMID 28091804 2017 Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls.

PMID 27501770 2016 Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.

PMID 24803582 2014 TP53 mutation spectrum in breast cancer is subtype specific and has distinct prognostic relevance.

PMID 8134126 1994 Predominantly tumor-limited expression of a mutant allele in a Japanese family carrying a germline p53 mutation.

PMID 20658636 2010 Acute lymphoblastic leukemia after temozolomide treatment for anaplastic astrocytoma in a child with a germline TP53 mutation.

PMID 27059324 2016 Identical TP53 mutations in pelvic carcinosarcomas and associated serous tubal intraepithelial carcinomas provide evidence of their clonal relationship.

PMID 26425688 2015 TP53 Mutational Status and Prediction of Benefit from Adjuvant 5-Fluorouracil in Stage III Colon Cancer Patients.

PMID 8887616 1996 Detection of p53 gene mutations in cytopathology and biopsy specimens from patients with lung cancer.

PMID 9301461 1997 The status of p53 in the metastatic progression of colorectal cancer.

PMID 19558493 2009 Investigation and prediction of the severity of p53 mutants using parameters from structural calculations.

PMID 8075648 1994 Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations.

PMID 26022348 2015 HBOC multi-gene panel testing: comparison of two sequencing centers.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 21232794 2011 A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples.

PMID 1562462 1992 Constitutional p53 mutation in a non-Li-Fraumeni cancer family.

PMID 19367569 2009 Li-Fraumeni and Li-Fraumeni-like syndrome mutations in p53 are associated with exonic methylation and splicing regulatory elements.

PMID 21060032 2010 TP53 mutation is frequently associated with CTNNB1 mutation or MYCN amplification and is compatible with long-term survival in medulloblastoma.

PMID 28573494 2017 A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families.

PMID 9627118 1998 Human tumor-derived p53 proteins exhibit binding site selectivity and temperature sensitivity for transactivation in a yeast-based assay.

PMID 2750177 1989 New laws about sexual misconduct by therapists: knowledge and attitudes among Wisconsin psychiatrists.

PMID 23259501 2012 Number of rare germline CNVs and TP53 mutation types.

PMID 22170717 2012 TP53 germline mutations in adult patients with adrenocortical carcinoma.

PMID 9446663 1998 17p Deletion in acute myeloid leukemia and myelodysplastic syndrome. Analysis of breakpoints and deleted segments by fluorescence in situ.

PMID 21348412 2010 Genetic testing and prevention of hereditary cancer at the MMCI--over 10 years of experience.

PMID 20501846 2010 Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study.

PMID 11420676 2001 Characterization of germline TP53 splicing mutations and their genetic and functional analysis.

PMID 25584008 2015 Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.

PMID 1961027 1991 Inactivation of the p53 gene expression by a splice donor site mutation in a human T-cell leukemia cell line.

PMID 1467311 1992 Germ-line splicing mutation of the p53 gene in a cancer-prone family.

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

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

PMID 18208484 2008 Choroid plexus carcinoma: a new case associated with a novel TP53 germ line mutation.

PMID 8869100 1996 A new germline TP53 gene mutation in a family with Li-Fraumeni syndrome.

PMID 11920788 2002 Analysis of TP53 germline mutations in pediatric tumor patients using DNA microarray-based sequencing technology.

PMID 10871862 2000 Identification of a tumor-derived p53 mutant with novel transactivating selectivity.

PMID 17541742 2008 Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families.

PMID 19462533 2009 Dissection of the sequence-specific DNA binding and exonuclease activities reveals a superactive yet apoptotically impaired mutant p53 protein.

PMID 12695689 2003 Leukemic and non-leukemic lymphocytes from patients with Li Fraumeni syndrome demonstrate loss of p53 function, Bcl-2 family dysregulation and intrinsic resistance to conventional chemotherapeutic drugs but not flavopiridol.

PMID 25896519 2015 Germline TP53 variants and susceptibility to osteosarcoma.

PMID 1377002 1992 TP53 tumor suppressor gene: a model for investigating human mutagenesis.

PMID 22989750 2012 Allele specific gain-of-function activity of p53 mutants in lung cancer cells.

PMID 19100519 2009 TP53 mutations but no CHEK2 *1100DelC variant in familial gliomas.

PMID 7664239 1995 Constitutional p53 mutations associated with brain tumors in young adults.

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

PMID 16000567 2005 Assessment of the transcriptional activity of p53 improves the prediction of recurrence in superficial transitional cell carcinoma of the bladder.

PMID 17572079 2007 Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline 'de-novo' TP53 mutation.

PMID 9764816 1998 Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome.

PMID 10713666 2000 Quantitative analysis of residual folding and DNA binding in mutant p53 core domain: definition of mutant states for rescue in cancer therapy.

PMID 20967502 2011 Inherited germline TP53 mutation encodes a protein with an aberrant C-terminal motif in a case of pediatric adrenocortical tumor.

PMID 11507071 2001 Loss of p53 function confers high-level multidrug resistance in neuroblastoma cell lines.

PMID 23612969 2013 A novel p53 mutant found in iatrogenic urothelial cancers is dysfunctional and can be rescued by a second-site global suppressor mutation.

PMID 9704930 1998 Characterization of p53 oligomerization domain mutations isolated from Li-Fraumeni and Li-Fraumeni like family members.

PMID 16033918 2006 Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.

PMID 9704931 1998 Characterization of the oligomerization defects of two p53 mutants found in families with Li-Fraumeni and Li-Fraumeni-like syndrome.

PMID 20478780 2010 [Li Fraumeni syndrome: a case with multiple primary cancers and presenting a germline p53 mutation].

PMID 9452042 1998 A germline missense mutation R337C in exon 10 of the human p53 gene.

PMID 9150393 1997 Two functional assays employed to detect an unusual mutation in the oligomerisation domain of p53 in a Li-Fraumeni like family.

PMID 27866339 2017 Recurrent TP53 missense mutation in cancer patients of Arab descent.

PMID 28486781 2017 Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.

PMID 1581912 1992 Inherited p53 gene mutations in breast cancer.

PMID 26086041 2015 Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry.

PMID 7966399 1994 High frequency of germline p53 mutations in childhood adrenocortical cancer.

PMID 22866089 2011 TP53 genetic alterations in Arab breast cancer patients: Novel mutations, pattern and distribution.

PMID 14673037 2003 TP53, BRCA1, and BRCA2 tumor suppressor genes are not commonly mutated in survivors of Hodgkin's disease with second primary neoplasms.

PMID 16818505 2006 Functional analysis and molecular modeling show a preserved wild-type activity of p53(C238Y).

PMID 15611070 2005 Binding of Rad51 and other peptide sequences to a promiscuous, highly electrostatic binding site in p53.

PMID 16204849 2005 The contribution of the Trp/Met/Phe residues to physical interactions of p53 with cellular proteins.

PMID 28369373 2017 Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

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

PMID 10949938 2000 p53 gene mutation and ink4a-arf deletion appear to be two mutually exclusive events in human glioblastoma.

PMID 16322298 2005 Clinical relevance of dominant-negative p73 isoforms for responsiveness to chemotherapy and survival in ovarian cancer: evidence for a crucial p53-p73 cross-talk in vivo.

PMID 21665182 2011 Increased sperm aneuploidy in two male carriers of germline TP53 mutations.

PMID 17567834 2007 Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age.

PMID 9020384 1997 Germline p53 mutation at codon 133 in a cancer-prone family.

PMID 20421238 2010 Novel germ line mutation p53-P177R in adult adrenocortical carcinoma producing neuron-specific enolase as a possible marker.

PMID 21763698 2011 Structural and functional impact of cancer-related missense somatic mutations.

PMID 12124823 2002 Influence of p53 mutations on prognosis of patients with glioblastoma.

PMID 10914716 2000 Detection of minimal residual cancer to investigate why oral tumors recur despite seemingly adequate treatment.

PMID 16288208 2006 AP2alpha alters the transcriptional activity and stability of p53.

PMID 15825182 2005 Functional analysis of p53 gene and the prognostic impact of dominant-negative p53 mutation in endometrial cancer.

PMID 15192123 2004 Constitutive and DNA damage inducible activation of pig3 and MDM2 genes by tumor-derived p53 mutant C277Y.

PMID 19671856 2009 Profiling of chemonaive osteosarcoma and paired-normal cells identifies EBF2 as a mediator of osteoprotegerin inhibition to tumor necrosis factor-related apoptosis-inducing ligand-induced apoptosis.

PMID 18685109 2008 Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.

PMID 11900253 2001 Rescuing the function of mutant p53.

PMID 20436704 2010 TP53 mutations in Korean patients with non-small cell lung cancer.

PMID 27022024 2016 Modeling the Etiology of p53-mutated Cancer Cells.

PMID 19046423 2008 Association of the germline TP53 R337H mutation with breast cancer in southern Brazil.

PMID 24077944 2014 Characterization of a novel tumorigenic esophageal adenocarcinoma cell line: OANC1.

PMID 17417968 2007 Identification of typical medullary breast carcinoma as a genomic sub-group of basal-like carcinomas, a heterogeneous new molecular entity.

PMID 24113472 2014 SF3B1 mutations correlated to cytogenetics and mutations in NOTCH1, FBXW7, MYD88, XPO1 and TP53 in 1160 untreated CLL patients.

PMID 21483000 2011 Mutational status of the TP53 gene as a predictor of response and survival in patients with chronic lymphocytic leukemia: results from the LRF CLL4 trial.

PMID 8242631 1993 TP53 gene mutation profile in esophageal squamous cell carcinomas.

PMID 22911296 2012 Frequent mutations in TP53 and CDKN2A found by next-generation sequencing of head and neck cancer cell lines.

PMID 17390010 2007 Oncogenic mutation of the p53 gene derived from head and neck cancer prevents cells from undergoing apoptosis after DNA damage.

PMID 21056685 2011 Co-localization of mutant p53 and amyloid-like protein aggregates in breast tumors.

PMID 17573896 2007 p53 gene mutations in esophageal squamous cell carcinoma and their relevance to etiology and pathogenesis: results in Japan and comparisons with other countries.

PMID 12509279 2002 A novel p53 mutant retained functional activity in lung carcinomas.

PMID 9569035 1998 Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours.

PMID 26718964 2016 Complex analysis of the p53 tumor suppressor in lung carcinoma.

PMID 8308926 1994 Germline p53 gene mutations in subsets of glioma patients.

PMID 11285227 2001 COP9 signalosome-specific phosphorylation targets p53 to degradation by the ubiquitin system.

PMID 9572492 1998 p53 mutations isolated in yeast based on loss of transcription factor activity: similarities and differences from p53 mutations detected in human tumors.

PMID 14584079 2003 Familial sarcoma: challenging pedigrees.

PMID 21159183 2010 p53 in head and neck cancer: functional consequences and environmental implications of TP53 mutations.

PMID 19147582 2009 High frequency of TP53 mutation in BRCA1 and sporadic basal-like carcinomas but not in BRCA1 luminal breast tumors.

PMID 8458321 1993 The transforming and suppressor functions of p53 alleles: effects of mutations that disrupt phosphorylation, oligomerization and nuclear translocation.

PMID 22768918 2012 p53 Mutagenesis by benzo[a]pyrene derived radical cations.

PMID 8080050 1994 Gain-of-function mutations of the p53 gene induce lymphohematopoietic metastatic potential and tissue invasiveness.

PMID 10229196 1999 Novel p53 mutants selected in BRCA-associated tumours which dissociate transformation suppression from other wild-type p53 functions.

PMID 10654936 2000 Mechanism of rescue of common p53 cancer mutations by second-site suppressor mutations.

PMID 15703170 2005 Structures of p53 cancer mutants and mechanism of rescue by second-site suppressor mutations.

PMID 9524109 1998 Genetic selection of intragenic suppressor mutations that reverse the effect of common p53 cancer mutations.

PMID 17401432 2007 Structure-function-rescue: the diverse nature of common p53 cancer mutants.

PMID 19238535 2010 Identification and characterization of two novel germ line p53 mutations in the non-LFS/non-LFL breast cancer families in Chinese population.

PMID 23056405 2012 Predicting the functional effect of amino acid substitutions and indels.

PMID 18978813 2009 Crystal structure of a p53 core tetramer bound to DNA.

PMID 8688334 1996 A constitutional de novo mutation in exon 8 of the p53 gene in a patient with multiple primary malignancies.

PMID 15993273 2005 Hereditary breast cancer syndromes in a Turkish population. Results of molecular germline analysis.

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

PMID 27372520 2017 USP7 inhibitors, downregulating CCDC6, sensitize lung neuroendocrine cancer cells to PARP-inhibitor drugs.

PMID 9359923 1997 Yeast functional assay of the p53 gene status in human cell lines maintained in our laboratory.

PMID 16489069 2006 The clinical value of somatic TP53 gene mutations in 1,794 patients with breast cancer.

PMID 23196062 2013 Comprehensive DNA methylation and extensive mutation analyses reveal an association between the CpG island methylator phenotype and oncogenic mutations in gastric cancers.

PMID 23334666 2013 The genetic landscape of high-risk neuroblastoma.

PMID 16793544 2006 Structural basis of DNA recognition by p53 tetramers.

PMID 8118819 1994 Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.

PMID 16035029 2005 Cooperative binding of p53 to DNA: regulation by protein-protein interactions through a double salt bridge.

PMID 23665223 2013 p53 DNA binding cooperativity is essential for apoptosis and tumor suppression in vivo.

PMID 15221755 2004 Functional protein microarrays for parallel characterisation of p53 mutants.

PMID 10206274 1999 Radiation-induced G1 arrest is not defective in fibroblasts from Li-Fraumeni families without TP53 mutations.

rs35850753 in TP53 gene and Neuroblastoma PMID 28545128 2017 Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma.

rs1057520002 in TP53 gene and Papillary renal cell carcinoma, sporadic PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs78378222 in TP53 gene and Plexiform leiomyoma PMID 31249589 2019 A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids.

PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

PMID 31649266 2019 Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

rs78378222 in TP53 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1057519977 in TP53 gene and Renal Cell Carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519747 in TP53 gene and Serous cystadenocarcinoma ovary PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs8078476 in TP53 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1625895 in TP53 gene and Sex hormone binding globulin measurement PMID 22829776 2012 A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.

rs1057519747 in TP53 gene and Small cell carcinoma of lung PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519975 in TP53 gene and Squamous cell carcinoma of lung PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519985 in TP53 gene and Squamous cell carcinoma of skin PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519747 in TP53 gene and Squamous cell carcinoma of the head and neck PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519975 in TP53 gene and Transitional cell carcinoma of bladder PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519981 in TP53 gene and Uterine Carcinosarcoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519981 in TP53 gene and Uterine Cervical Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs78378222 in TP53 gene and Uterine Fibroids PMID 31649266 2019 Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

PMID 31249589 2019 A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids.

rs78378222 in TP53 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.