Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359479
rs80359479
CA 0.700 CausalMutation CLINVAR Outcome of unexpected adnexal neoplasia discovered during risk reduction salpingo-oophorectomy in women with germ-line BRCA1 or BRCA2 mutations. 24333842

2014

dbSNP: rs80359479
rs80359479
CA 0.700 CausalMutation CLINVAR Genetic testing and first presymptomatic diagnosis in Moroccan families at high risk for breast/ovarian cancer. 22866093

2011

dbSNP: rs80359479
rs80359479
CA 0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516

2011

dbSNP: rs80359479
rs80359479
CA 0.700 CausalMutation CLINVAR Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report. 21559243

2011

dbSNP: rs80359479
rs80359479
CA 0.700 CausalMutation CLINVAR BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin. 19912264

2010

dbSNP: rs80359479
rs80359479
CA 0.700 CausalMutation CLINVAR Case report: de novo BRCA2 gene mutation in a 35-year-old woman with breast cancer. 19796187

2009

dbSNP: rs80359479
rs80359479
CA 0.700 CausalMutation CLINVAR BRCA1/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-based study in central Italy. 18819001

2009

dbSNP: rs80359479
rs80359479
CA 0.700 CausalMutation CLINVAR A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. 16683254

2006

dbSNP: rs80359479
rs80359479
CA 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in women from Shanghai China. 14973102

2004

dbSNP: rs80359479
rs80359479
CA 0.700 CausalMutation CLINVAR Cancer variation associated with the position of the mutation in the BRCA2 gene. 15131399

2004

dbSNP: rs80359479
rs80359479
CA 0.700 CausalMutation CLINVAR Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. 14559878

2003

dbSNP: rs80359479
rs80359479
CA 0.700 CausalMutation CLINVAR BRCA mutations in Italian breast/ovarian cancer families. 11938448

2002

dbSNP: rs80359479
rs80359479
CA 0.700 CausalMutation CLINVAR Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. 12181777

2002

dbSNP: rs80359479
rs80359479
CA 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: rs80359479
rs80359479
C 0.700 CausalMutation CLINVAR