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 BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. 28283652

2017
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Next-generation sequencing in familial breast cancer patients from Lebanon. 28202063

2017
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR A Survey of BRCA1, BRCA2, and PALB2 mutations in women with breast cancer in Trinidad and Tobago. 27469594

2016
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway. 25652403

2015
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752

2014
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 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 Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. 23199084

2010
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 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 Founder mutations in BRCA1 and BRCA2 genes. 17591843

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

2005