Condition: Nephroblastoma


rs1555913934 in CHEK2 gene and Nephroblastoma PMID 11967536 2002 Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations.

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

PMID 21244692 2011 Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.

PMID 19030985 2009 Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk.

PMID 23329222 2012 CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families.

PMID 20722467 2010 Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer.

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

PMID 21956126 2012 CHEK2*1100delC and risk of malignant melanoma: Danish and German studies and meta-analysis.

PMID 10617473 1999 Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.

PMID 11719428 2001 Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.

PMID 15492928 2004 CHEK2 is a multiorgan cancer susceptibility gene.

PMID 21876083 2011 Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer.

PMID 22058216 2012 A risk of essential thrombocythemia in carriers of constitutional CHEK2 gene mutations.

PMID 18759107 2009 CHEK2 1100delC and male breast cancer in the Netherlands.

PMID 22691310 2012 Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases.

PMID 22058428 2011 CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women.

PMID 23415889 2013 Excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive familial breast cancer cases.

PMID 24723567 2014 Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer.

PMID 22994785 2012 CHEK2 1100delC variant and breast cancer risk in Caucasians: a meta-analysis based on 25 studies with 29,154 cases and 37,064 controls.

PMID 23409019 2013 Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.

PMID 22520019 2012 Frequency of the CHEK2 1100delC mutation among women with early-onset and bilateral breast cancer.

PMID 23109706 2012 CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer.

rs790356 in DLG2 gene and Nephroblastoma PMID 22544364 2012 A genome-wide association study identifies susceptibility loci for Wilms tumor.

rs122453121 in GPC3 gene and Nephroblastoma PMID 24459012 2014 Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation.

PMID 17603795 2007 GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.

PMID 17850639 2007 Germinal mosaicism in Simpson-Golabi-Behmel syndrome.

rs1027643 in LOC105379082 gene and Nephroblastoma PMID 22544364 2012 A genome-wide association study identifies susceptibility loci for Wilms tumor.

rs5955543 in NHS gene and Nephroblastoma PMID 22544364 2012 A genome-wide association study identifies susceptibility loci for Wilms tumor.

rs2495478 in PCSK9 gene and Nephroblastoma PMID 22544364 2012 A genome-wide association study identifies susceptibility loci for Wilms tumor.

rs11913239 in TCN2 gene and Nephroblastoma PMID 22544364 2012 A genome-wide association study identifies susceptibility loci for Wilms tumor.

rs121907909 in WT1 gene and Nephroblastoma PMID 10571943 1999 Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.

PMID 23515051 2013 Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

PMID 21851196 2011 Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.

PMID 9108089 1997 Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology.

PMID 15150775 2004 Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.

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

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

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