Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 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
C 0.730 CausalMutation CLINVAR

dbSNP: rs41293459
rs41293459
BRCA1
0.710 GeneticVariation BEFREE BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. 22889855

2012
dbSNP: rs41293459
rs41293459
BRCA1
T 0.710 GeneticVariation CLINVAR

dbSNP: rs1555578360
rs1555578360
BRCA1
CT 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs1555587401
rs1555587401
BRCA1
T 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs1555588460
rs1555588460
BRCA1
T 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs62625308
rs62625308
BRCA1
A 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs80357234
rs80357234
BRCA1
A 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs80357522
rs80357522
BRCA1
CT 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs80357579
rs80357579
BRCA1
C 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs80357912
rs80357912
BRCA1
GA 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs80358010
rs80358010
BRCA1 ; NBR2
T 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs1060502333
rs1060502333
BRCA1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1567788936
rs1567788936
BRCA1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1567790190
rs1567790190
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1567792938
rs1567792938
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1567797661
rs1567797661
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1567797787
rs1567797787
BRCA1
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1567798003
rs1567798003
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1567800087
rs1567800087
BRCA1
ACTGGCCAGTAAGTCTATTTTCTCTGAAGAAC 0.700 CausalMutation CLINVAR

dbSNP: rs1567801576
rs1567801576
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs273901746
rs273901746
BRCA1
C 0.700 CausalMutation CLINVAR