Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359159
rs80359159
T 0.700 CausalMutation CLINVAR The germline mutational landscape of BRCA1 and BRCA2 in Brazil. 29907814

2018

dbSNP: rs80359159
rs80359159
T 0.700 CausalMutation CLINVAR Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan. 29176636

2018

dbSNP: rs80359159
rs80359159
T 0.700 CausalMutation CLINVAR Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients. 28205045

2017

dbSNP: rs80359159
rs80359159
T 0.700 CausalMutation CLINVAR Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. 28008555

2017

dbSNP: rs80359159
rs80359159
T 0.700 CausalMutation CLINVAR Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. 26187060

2016

dbSNP: rs80359159
rs80359159
T 0.700 CausalMutation CLINVAR Germline mutations in Japanese familial pancreatic cancer patients. 27732944

2016

dbSNP: rs80359159
rs80359159
T 0.700 CausalMutation CLINVAR The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. 25863477

2015

dbSNP: rs80359159
rs80359159
T 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: rs80359159
rs80359159
T 0.700 CausalMutation CLINVAR Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes. 22632462

2012

dbSNP: rs80359159
rs80359159
T 0.700 CausalMutation CLINVAR Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. 19016756

2008

dbSNP: rs80359159
rs80359159
T 0.700 CausalMutation CLINVAR Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years. 16912212

2006

dbSNP: rs80359159
rs80359159
T 0.700 CausalMutation CLINVAR Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population. 11595708

2001

dbSNP: rs80359159
rs80359159
T 0.700 CausalMutation CLINVAR Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families. 11149425

2001