Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs55770810
rs55770810
BRCA1
A 0.800 CausalMutation CLINVAR

dbSNP: rs55770810
rs55770810
BRCA1
0.800 GeneticVariation UNIPROT

dbSNP: rs28897672
rs28897672
BRCA1
0.730 GeneticVariation BEFREE We identified a founder mutation (4153delA, 5382insC or C61G) in 6% of 235 unselected cases of breast cancer and in 19% of 43 unselected cases of ovarian cancer. 20345474

2010
dbSNP: rs28897672
rs28897672
BRCA1
0.730 GeneticVariation BEFREE While the Cys61Gly mutation appeared underrepresented in ovarian cancer as compared with breast cancer cases from the same population (p = 0.01), the 4153delA mutation made a higher contribution to ovarian cancer than to breast cancer (p < 0.01). 20569256

2010
dbSNP: rs28897672
rs28897672
BRCA1
0.730 GeneticVariation BEFREE The risk for breast cancer was 42% higher among first degree relatives of carriers of the C61G missense mutation compared to other mutations (HR = 1.42; p = 0.10) and the risk for ovarian cancer was lower than average (OR = 0.26; p = 0.03). 16227521

2006
dbSNP: rs28897672
rs28897672
BRCA1
0.730 GeneticVariation UNIPROT

dbSNP: rs1800726
rs1800726
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs1800751
rs1800751
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs1800757
rs1800757
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs273900729
rs273900729
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs80187739
rs80187739
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs80356898
rs80356898
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs80356993
rs80356993
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs80357233
rs80357233
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs80357462
rs80357462
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs80357474
rs80357474
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs80357669
rs80357669
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs80357828
rs80357828
BRCA1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1799950
rs1799950
BRCA1
0.030 GeneticVariation BEFREE Further characterisation of rs1799950 is now warranted in relation to chemosensitivity and susceptibility to developing ovarian carcinoma. 29298688

2018
dbSNP: rs1799950
rs1799950
BRCA1
0.030 GeneticVariation BEFREE We resequenced BRCA1 and BRCA2 in 194 women with a familial history of breast and/or ovarian cancer and identified nine possibly biologically relevant polymorphisms (BRCA1 Gln356Arg, Pro871Leu, Glu1038Gly, Ser1613Gly, and Met1652Ile. 19661094

2009
dbSNP: rs1799950
rs1799950
BRCA1
0.030 GeneticVariation BEFREE The rare form of the Q356R polymorphism was significantly ( P = 0.03) associated with a family history of ovarian cancer, suggesting that this polymorphism may influence ovarian cancer risk. 10196379

1999
dbSNP: rs748876625
rs748876625
BRCA1
0.020 GeneticVariation BEFREE This finding indicates the necessity of searching for 300T>G mutation in families with a single diagnosis of ovarian cancer in family. 22395474

2012
dbSNP: rs786203319
rs786203319
BRCA1
0.020 GeneticVariation BEFREE The ITGB3 Leu33Pro polymorphism does not modify breast or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers. 19876733

2010
dbSNP: rs80357750
rs80357750
BRCA1
0.020 GeneticVariation BEFREE The ITGB3 Leu33Pro polymorphism does not modify breast or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers. 19876733

2010