Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356860
rs80356860
T 0.700 CausalMutation CLINVAR Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA. 26780556

2016

dbSNP: rs80356860
rs80356860
T 0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. 25682074

2015

dbSNP: rs80356860
rs80356860
T 0.700 CausalMutation CLINVAR Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. 24240112

2014

dbSNP: rs80356860
rs80356860
T 0.700 CausalMutation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013

dbSNP: rs80356860
rs80356860
T 0.700 GeneticVariation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013

dbSNP: rs80356860
rs80356860
T 0.700 CausalMutation CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134

2012

dbSNP: rs80356860
rs80356860
T 0.700 CausalMutation CLINVAR Non-founder BRCA1 mutations in Russian breast cancer patients. 20727672

2010

dbSNP: rs80356860
rs80356860
T 0.700 GeneticVariation CLINVAR Non-founder BRCA1 mutations in Russian breast cancer patients. 20727672

2010

dbSNP: rs80356860
rs80356860
T 0.700 CausalMutation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010

dbSNP: rs80356860
rs80356860
T 0.700 CausalMutation CLINVAR Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. 17308087

2007

dbSNP: rs80356860
rs80356860
T 0.700 CausalMutation CLINVAR A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. 17924331

2007

dbSNP: rs80356860
rs80356860
T 0.700 CausalMutation CLINVAR Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling. 17262179

2007

dbSNP: rs80356860
rs80356860
T 0.700 CausalMutation CLINVAR Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. 15172985

2004

dbSNP: rs80356860
rs80356860
T 0.700 CausalMutation CLINVAR Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. 15235020

2004

dbSNP: rs80356860
rs80356860
T 0.700 CausalMutation CLINVAR Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. 12955716

2003

dbSNP: rs80356860
rs80356860
T 0.700 CausalMutation CLINVAR Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer. 11979449

2002

dbSNP: rs80356860
rs80356860
T 0.700 CausalMutation CLINVAR Spanish family study on hereditary breast and/or ovarian cancer: analysis of the BRCA1 gene. 11149413

2001

dbSNP: rs80356860
rs80356860
T 0.700 GeneticVariation CLINVAR Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families. 10755399

2000