Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Breast and Ovarian Cancer Syndrome
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
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer. 22798144 2012
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. 21203900 2011
Hereditary Breast and Ovarian Cancer Syndrome
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
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. 19241424 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Age-dependent penetrance of different germline mutations in the BRCA1 gene. 19329713 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR The contribution of founder mutations to early-onset breast cancer in French-Canadian women. 19863560 2009
Hereditary Breast and Ovarian Cancer Syndrome
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
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance. 18680205 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Molecular genetics analysis of hereditary breast and ovarian cancer patients in India. 19656415 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1 genetic testing in 106 breast and ovarian cancer families from Southern Italy (Sicily): a mutation analyses. 17221156 2007
Hereditary Breast and Ovarian Cancer Syndrome
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
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families. 15883839 2005
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques. 15951958 2005
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. 16030099 2005
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1 variants in a family study of African-American and Latina women. 15726418 2005
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Rapid detection of deletion, insertion, and substitution mutations via heteroduplex analysis using capillary- and microchip-based electrophoresis. 10984458 2000
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Founder populations and their uses for breast cancer genetics. 11250694 2000
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR The prevalence of BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives. 10682662 2000
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history. 10422801 1999
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Double heterozygosity for mutations in the BRCA1 and BRCA2 genes in a breast cancer patient. 9625424 1998
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. 9792861 1998
Hereditary Breast and Ovarian Cancer Syndrome
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
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. 8571953 1996