Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs967624732
rs967624732
BRCA1
0.010 GeneticVariation BEFREE The p.Ala126Thr and p.Val169Ala variants have been reported to have no association with risk of breast cancer in a case-control study. 22476429

2012
dbSNP: rs886040920
rs886040920
BRCA1
0.010 GeneticVariation BEFREE We investigated and found no significant association between the P210L variant and breast cancer risk in a small case-control study of African-American women. 21113654

2011
dbSNP: rs886040898
rs886040898
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs886039958
rs886039958
BRCA1
0.010 GeneticVariation BEFREE Here, we discovered that carriers of both variants, AKAP10 Ile646Val and AKAP13 Lys526Gln, are at a further enhanced breast cancer risk (OR=2.41, 95% CI 1.30-4.46, P=0.005). 16956908

2007
dbSNP: rs886039920
rs886039920
BRCA1
0.010 GeneticVariation BEFREE Our findings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the requirement of the PALB2-BRCA1 interaction for breast cancer suppression. 28319063

2017
dbSNP: rs886037971
rs886037971
BRCA1
0.010 GeneticVariation BEFREE There was some evidence (two-sided P = 0.09) that 330A>G (R71G) in BRCA1 may have lower breast cancer penetrance. 18451254

2008
dbSNP: rs879255498
rs879255498
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs879255320
rs879255320
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs879255317
rs879255317
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs879254042
rs879254042
BRCA1
0.700 GeneticVariation UNIPROT Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. 12938098

2003
dbSNP: rs879254042
rs879254042
BRCA1
0.700 GeneticVariation UNIPROT A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene. 9760198

1998
dbSNP: rs879254042
rs879254042
BRCA1
0.700 GeneticVariation UNIPROT Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. 15133502

2004
dbSNP: rs879254042
rs879254042
BRCA1
0.700 GeneticVariation UNIPROT BRCA1 mutations in primary breast and ovarian carcinomas. 7939630

1994
dbSNP: rs879254042
rs879254042
BRCA1
0.700 GeneticVariation UNIPROT BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico. 12442275

2002
dbSNP: rs879254042
rs879254042
BRCA1
0.700 GeneticVariation UNIPROT Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. 7894491

1994
dbSNP: rs879254042
rs879254042
BRCA1
0.700 GeneticVariation UNIPROT Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations. 8776600

1996
dbSNP: rs879254042
rs879254042
BRCA1
0.700 GeneticVariation UNIPROT Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea. 28364669

2017
dbSNP: rs879254042
rs879254042
BRCA1
0.700 GeneticVariation UNIPROT Mutations in the BRCA1 gene in Japanese breast cancer patients. 8723683

1996
dbSNP: rs879254042
rs879254042
BRCA1
0.700 GeneticVariation UNIPROT Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. 7894493

1994
dbSNP: rs879254042
rs879254042
BRCA1
0.700 GeneticVariation UNIPROT A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013
dbSNP: rs879254042
rs879254042
BRCA1
0.700 GeneticVariation UNIPROT Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition. 21473589

2011
dbSNP: rs879254042
rs879254042
BRCA1
0.700 GeneticVariation UNIPROT Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. 14722926

2004
dbSNP: rs879254042
rs879254042
BRCA1
0.700 GeneticVariation UNIPROT Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan. 10323242

1999
dbSNP: rs879254042
rs879254042
BRCA1
0.700 GeneticVariation UNIPROT Structural consequences of a cancer-causing BRCA1-BRCT missense mutation. 12427738

2003
dbSNP: rs879254042
rs879254042
BRCA1
0.700 GeneticVariation UNIPROT Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. 18285836

2008