Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357433
rs80357433
BRCA1
C 0.700 CausalMutation CLINVAR Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer. 23110154

2012
dbSNP: rs80357433
rs80357433
BRCA1
C 0.700 CausalMutation CLINVAR Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families. 22160602

2012
dbSNP: rs80357433
rs80357433
BRCA1
C 0.700 CausalMutation CLINVAR Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age. 20807450

2010
dbSNP: rs80357433
rs80357433
BRCA1
C 0.700 CausalMutation CLINVAR Caspase-dependent BRCA1 cleavage facilitates chemotherapy-induced apoptosis. 18071904

2008
dbSNP: rs80357433
rs80357433
BRCA1
C 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic. 11844822

2002
dbSNP: rs80357433
rs80357433
BRCA1
C 0.700 CausalMutation CLINVAR The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. 12393792

2002
dbSNP: rs80357433
rs80357433
BRCA1
C 0.700 CausalMutation CLINVAR A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. 8554067

1996