Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357729
rs80357729
CT 0.700 CausalMutation CLINVAR The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. 24916970

2015

dbSNP: rs80357729
rs80357729
CT 0.700 CausalMutation CLINVAR Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations. 23633455

2013

dbSNP: rs80357729
rs80357729
CT 0.700 CausalMutation CLINVAR Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families. 22160602

2012

dbSNP: rs80357729
rs80357729
CT 0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: the Korean Hereditary Breast Cancer (KOHBRA) Study. 22382806

2012

dbSNP: rs80357729
rs80357729
CT 0.700 CausalMutation CLINVAR BRCA1 And BRCA2 analysis of Argentinean breastovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin. 23961350

2012

dbSNP: rs80357729
rs80357729
CT 0.700 CausalMutation CLINVAR Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO). 22762150

2012

dbSNP: rs80357729
rs80357729
CT 0.700 CausalMutation CLINVAR Family history, BRCA mutations and breast cancer in Vietnamese women. 20950396

2011

dbSNP: rs80357729
rs80357729
CT 0.700 CausalMutation CLINVAR Identification of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC. 16949048

2006

dbSNP: rs80357729
rs80357729
CT 0.700 CausalMutation CLINVAR Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer. 17100994

2006

dbSNP: rs80357729
rs80357729
CT 0.700 CausalMutation CLINVAR Germline mutations of BRCA1 and BRCA2 in Korean sporadic ovarian carcinoma. 16084575

2005