Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. 11320250

2001
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 Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model. 12915465

2003
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex. 12732733

2003
dbSNP: rs80357064
rs80357064
BRCA1
0.710 GeneticVariation BEFREE Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Arg) mutation, mapped to the RING-finger domain coding region, that we detected in 43 hereditary breast/ovarian cancer (HBOC) families, for the large part originating from the province of Bergamo (Northern Italy). 24516540

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: 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: 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: 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 Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families. 15168169

2004
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 Germline mutation of BRCA1 in Japanese breast cancer families. 7627958

1995
dbSNP: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. 19016756

2008
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: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR Prevalence and differentiation of hereditary breast and ovarian cancers in Japan. 24249303

2015
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 Reduction of BRCA1 protein expression in Japanese sporadic breast carcinomas and its frequent loss in BRCA1-associated cases. 10389907

1999
dbSNP: rs80357086
rs80357086
BRCA1
0.710 GeneticVariation BEFREE By using trial registration data from the Japanese hereditary breast and ovarian cancer syndrome (HBOC) consortium, we aimed to explore the clinicopathological characteristics of breast cancer patients with the Japanese founder mutation <i>BRCA1</i> L63X. 31143373

2019
dbSNP: rs80357382
rs80357382
BRCA1
C 0.710 CausalMutation CLINVAR Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. 11320250

2001
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
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: 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: 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 Functional differences among BRCA1 missense mutations in the control of centrosome duplication. 21725363

2012
dbSNP: rs80357382
rs80357382
BRCA1
C 0.710 CausalMutation CLINVAR BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families. 10508480

1999