Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358981
rs80358981
BRCA2
T 0.700 CausalMutation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015
dbSNP: rs80358981
rs80358981
BRCA2
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: rs80358981
rs80358981
BRCA2
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs80358981
rs80358981
BRCA2
T 0.700 CausalMutation CLINVAR Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. 24549055

2014
dbSNP: rs80358981
rs80358981
BRCA2
T 0.700 CausalMutation CLINVAR The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay. 24830819

2014
dbSNP: rs80358981
rs80358981
BRCA2
T 0.700 CausalMutation CLINVAR Squamous Cell Carcinoma of the Pancreas in a Patient with Germline BRCA2 Mutation-Response to Neoadjuvant Radiochemotherapy. 24959366

2014
dbSNP: rs80358981
rs80358981
BRCA2
T 0.700 CausalMutation CLINVAR Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. 23242139

2013
dbSNP: rs80358981
rs80358981
BRCA2
T 0.700 CausalMutation CLINVAR Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ. 22009639

2012
dbSNP: rs80358981
rs80358981
BRCA2
T 0.700 CausalMutation CLINVAR Earlier age of onset of BRCA mutation-related cancers in subsequent generations. 21913181

2012
dbSNP: rs80358981
rs80358981
BRCA2
T 0.700 CausalMutation CLINVAR Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer. 21990299

2011
dbSNP: rs80358981
rs80358981
BRCA2
T 0.700 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584

2010
dbSNP: rs80358981
rs80358981
BRCA2
T 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. 16284991

2005
dbSNP: rs80358981
rs80358981
BRCA2
T 0.700 CausalMutation CLINVAR One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden. 14746861

2004
dbSNP: rs80358981
rs80358981
BRCA2
T 0.700 CausalMutation CLINVAR Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. 14981104

2004
dbSNP: rs80358981
rs80358981
BRCA2
T 0.700 CausalMutation CLINVAR Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers. 12491499

2003
dbSNP: rs80358981
rs80358981
BRCA2
T 0.700 CausalMutation CLINVAR Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. 9150154

1997