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 Patterns and functional implications of rare germline variants across 12 cancer types. 26689913

2015
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 Deleterious BRCA1/2 mutations in an urban population of Black women. 26250392

2015
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
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 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: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients. 22034289

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 Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination. 20103620

2010
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair. 18066063

2008
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer. 18489799

2008
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization. 16140926

2005
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. 16267036

2005
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
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 BRCA1 and BRCA2 mutations in breast cancer families with multiple primary cancers. 11106241

2000
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? 9042907

1997
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. 7894491

1994