Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060502346
rs1060502346
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: rs1060502347
rs1060502347
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs11655505
rs11655505
BRCA1 ; NBR2
0.010 GeneticVariation BEFREE Our study failed to confirm a role of rs11655505 in breast cancer risk. 20413709

2010
dbSNP: rs1216516227
rs1216516227
BRCA1
0.010 GeneticVariation BEFREE Initial screening revealed pathogenic variants in known cancer genes, including <i>BARD1</i>:p.Trp91* detected in a cancer-free individual, and <i>MEN1</i>:p.Glu260Lys detected in a BC patient. 31681433

2019
dbSNP: rs12516
rs12516
BRCA1
0.010 GeneticVariation BEFREE SNP c.*1287C>T (rs12516) of the BRCA1 gene may have potential use as a genetic marker of an increased risk of developing breast cancer and likely represents a non-coding sequence variation in BRCA1 that impacts BRCA1 function and leads to increased early-onset and/or familial breast cancer risk in the Turkish population. 25339023

2014
dbSNP: rs1252889664
rs1252889664
BRCA1
0.010 GeneticVariation BEFREE Two amino acid substitutions p.S707P and p.F858L, previously reported to be associated with breast cancer, were present in our study in cases and controls, lacking of association with breast cancer. 17351744

2008
dbSNP: rs1296005499
rs1296005499
BRCA1
0.010 GeneticVariation BEFREE Along with the G2355C (S761N) missense mutation previously identified in a uterine cancer, we found two other variants in breast cancers, T2006C (C645R) and A2286G (I738V). 16061562

2005
dbSNP: rs1328261486
rs1328261486
BRCA1
0.010 GeneticVariation BEFREE Additional studies in other cohorts and other populations are however needed to further evaluate the implication of the Pro377Ser missense variant with regard to breast cancer susceptibility. 17943227

2007
dbSNP: rs1418676444
rs1418676444
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: rs1450793674
rs1450793674
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: rs1450793674
rs1450793674
BRCA1
0.700 GeneticVariation UNIPROT Mutations in the BRCA1 gene in Japanese breast cancer patients. 8723683

1996
dbSNP: rs1450793674
rs1450793674
BRCA1
0.700 GeneticVariation UNIPROT BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico. 12442275

2002
dbSNP: rs1450793674
rs1450793674
BRCA1
0.700 GeneticVariation UNIPROT Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition. 21473589

2011
dbSNP: rs1450793674
rs1450793674
BRCA1
0.700 GeneticVariation UNIPROT Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. 15133502

2004
dbSNP: rs1450793674
rs1450793674
BRCA1
0.700 GeneticVariation UNIPROT Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening. 9482581

1998
dbSNP: rs1450793674
rs1450793674
BRCA1
0.700 GeneticVariation UNIPROT A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. 7545954

1994
dbSNP: rs1450793674
rs1450793674
BRCA1
0.700 GeneticVariation UNIPROT Structural consequences of a cancer-causing BRCA1-BRCT missense mutation. 12427738

2003
dbSNP: rs1450793674
rs1450793674
BRCA1
0.700 GeneticVariation UNIPROT Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress. 11114888

2000
dbSNP: rs1450793674
rs1450793674
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: rs1450793674
rs1450793674
BRCA1
0.700 GeneticVariation UNIPROT BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. 11301010

2001
dbSNP: rs1450793674
rs1450793674
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: rs1450793674
rs1450793674
BRCA1
0.700 GeneticVariation UNIPROT Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. 7894491

1994
dbSNP: rs1450793674
rs1450793674
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: rs1450793674
rs1450793674
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: rs1450793674
rs1450793674
BRCA1
0.700 GeneticVariation UNIPROT A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013