Gene: BRCA1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. 27741520

2016
dbSNP: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. 26187060

2016
dbSNP: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in Japanese patients with ovarian, fallopian tube, and primary peritoneal cancer. 26439132

2016
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 25186627

2015
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Patterns and functional implications of rare germline variants across 12 cancer types. 26689913

2015
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Deleterious BRCA1/2 mutations in an urban population of Black women. 26250392

2015
dbSNP: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing. 25802882

2015
dbSNP: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR Prevalence and differentiation of hereditary breast and ovarian cancers in Japan. 24249303

2015
dbSNP: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR Here, we report the first case of serous tubal intraepithelial carcinoma identified through a risk-reducing salpingo-oophorectomy in a Japanese woman with hereditary breast and ovarian cancer syndrome and who had a deleterious germline mutation of E1214X in BRCA1, but not a BRCA2 mutation. 24719479

2014
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Characterization of an Italian founder mutation in the RING-finger domain of BRCA1. 24516540

2014
dbSNP: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. 24884479

2014
dbSNP: rs80357382
rs80357382
BRCA1
C 0.710 CausalMutation CLINVAR This population is highly admixed with a different spectrum of genetic susceptibility, with the Galician founder mutation BRCA1 p.R71G accounting for 50% of all identified mutations in high-risk HBOC patients. 27081505

2014
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. 23161852

2013
dbSNP: rs80357382
rs80357382
BRCA1
C 0.710 CausalMutation CLINVAR Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). 23683081

2013
dbSNP: rs80357382
rs80357382
BRCA1
C 0.710 CausalMutation CLINVAR Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. 23161852

2013
dbSNP: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR Germline BRCA1 and BRCA2 mutations in ovarian cancer: utility of a histology-based referral strategy. 22776961

2012
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Mechanisms of BRCA1 tumor suppression. 22843421

2012
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients. 22034289

2012
dbSNP: rs80357382
rs80357382
BRCA1
C 0.710 CausalMutation CLINVAR Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. 22505045

2012
dbSNP: rs80357382
rs80357382
BRCA1
C 0.710 CausalMutation CLINVAR Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes. 21735045

2012
dbSNP: rs80357382
rs80357382
BRCA1
C 0.710 CausalMutation CLINVAR Functional differences among BRCA1 missense mutations in the control of centrosome duplication. 21725363

2012
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination. 20103620

2010
dbSNP: rs80357382
rs80357382
BRCA1
C 0.710 CausalMutation CLINVAR Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination. 20103620

2010
dbSNP: rs80357382
rs80357382
BRCA1
C 0.710 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584

2010