Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines. 23341105

2013
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer. 22798144

2012
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Allelic transcripts dosage effect in morphologically normal ovarian cells from heterozygous carriers of a BRCA1/2 French Canadian founder mutation. 22401979

2012
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516

2011
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer. 20694749

2010
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR The contribution of founder mutations to early-onset breast cancer in French-Canadian women. 19863560

2009
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. 19241424

2009
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance. 18680205

2009
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR BRCA1 genetic testing in 106 breast and ovarian cancer families from Southern Italy (Sicily): a mutation analyses. 17221156

2007
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR BRCA1 variants in a family study of African-American and Latina women. 15726418

2005
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families. 15883839

2005
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. 16030099

2005
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. 11179017

2001
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. 7894491

1994
dbSNP: rs41293455
rs41293455
BRCA1
C 0.700 CausalMutation CLINVAR