Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified. 17851763

2008
dbSNP: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR Mutations in the BRCA1 gene in Japanese breast cancer patients. 8723683

1996
dbSNP: rs80356923
rs80356923
BRCA1
0.710 GeneticVariation BEFREE 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: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. 16683254

2006
dbSNP: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. 19370767

2009
dbSNP: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families. 11149425

2001
dbSNP: rs80356923
rs80356923
BRCA1
A 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: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. 9150151

1997
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: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR Molecular profiles of BRCA1-mutated and matched sporadic breast tumours: relation with clinico-pathological features. 11506493

2001
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 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 Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization. 16140926

2005
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 Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. 7894491

1994
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 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 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 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 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 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 BRCA1 and BRCA2 mutations in breast cancer families with multiple primary cancers. 11106241

2000
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