Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. 28339459

2017
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. 28008555

2017
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes. 25685387

2015
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752

2014
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. 23569316

2013
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence. 23479189

2013
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines. 23893897

2013
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR The role of BRCA1 and BRCA2 in prostate cancer. 23747895

2013
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. 22711857

2012
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer. 22527104

2012
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance. 20020529

2010
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR Elevated expression of Ki-67 identifies aggressive prostate cancers but does not distinguish BRCA1 or BRCA2 mutation carriers. 20043088

2010
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis. 20736950

2010
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR Overexpression of RAD51 occurs in aggressive prostatic cancer. 20002770

2009
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability. 17063265

2007
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR A review of targeted screening for prostate cancer: introducing the IMPACT study. 17419707

2007
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families. 16211554

2005
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. 12474142

2003
dbSNP: rs81002874
rs81002874
BRCA2
C 0.700 CausalMutation CLINVAR Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO. 12048272

2002
dbSNP: rs81002874
rs81002874
BRCA2
T 0.700 GeneticVariation CLINVAR