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 Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. 23233716

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 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 genetic characterization of hereditary breast/ovarian cancer families from Slovakia. 21203900

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 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 Age-dependent penetrance of different germline mutations in the BRCA1 gene. 19329713

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 account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. 18821011

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 Molecular genetics analysis of hereditary breast and ovarian cancer patients in India. 19656415

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 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families. 16417652

2006
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 A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques. 15951958

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 BRCA1 variants in a family study of African-American and Latina women. 15726418

2005
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Rapid detection of deletion, insertion, and substitution mutations via heteroduplex analysis using capillary- and microchip-based electrophoresis. 10984458

2000
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Founder populations and their uses for breast cancer genetics. 11250694

2000
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR The prevalence of BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives. 10682662

2000
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history. 10422801

1999
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Double heterozygosity for mutations in the BRCA1 and BRCA2 genes in a breast cancer patient. 9625424

1998
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. 9792861

1998
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis. 8990217

1997
dbSNP: rs41293455
rs41293455
BRCA1
A 0.700 CausalMutation CLINVAR Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. 8571953

1996