Gene: BRCA1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397509332
rs397509332
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients. 21918854

2012
dbSNP: rs80356929
rs80356929
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. 25823446

2015
dbSNP: rs80356929
rs80356929
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Identifying the effects of BRCA1 mutations on homologous recombination using cells that express endogenous wild-type BRCA1. 21372787

2011
dbSNP: rs80356929
rs80356929
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. 23161852

2013
dbSNP: rs80356929
rs80356929
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. 27272900

2016
dbSNP: rs80356929
rs80356929
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before age 45 years with first-degree family history. 9544766

1998
dbSNP: rs80356929
rs80356929
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013
dbSNP: rs80356929
rs80356929
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR BRCA1 mutations in a population-based sample of young women with breast cancer. 8531967

1996
dbSNP: rs80356929
rs80356929
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Identification of missense and truncating mutations in the BRCA1 gene in sporadic and familial breast and ovarian cancer. 9523200

1998
dbSNP: rs80357111
rs80357111
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs80357287
rs80357287
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. 24504028

2014
dbSNP: rs80357287
rs80357287
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
dbSNP: rs80357287
rs80357287
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. 11802209

2002
dbSNP: rs80357287
rs80357287
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR High penetrances of BRCA1 and BRCA2 mutations confirmed in a prospective series. 20180971

2010
dbSNP: rs80357287
rs80357287
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR Secondary somatic mutations restoring BRCA1/2 predict chemotherapy resistance in hereditary ovarian carcinomas. 21709188

2011
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation. 24489791

2014
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Characterization of BRCA1 ring finger variants of uncertain significance. 19543972

2010
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Structure of a BRCA1-BARD1 heterodimeric RING-RING complex. 11573085

2001
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR BRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report. 27225819

2016
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility. 16403807

2006
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs. 21990165

2012
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. 25823446

2015
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134

2012
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441

2015
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. 27272900

2016