Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance. 25146914 2014
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189 2014
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A cancer-associated BRCA2 mutation reveals masked nuclear export signals controlling localization. 24013206 2013
Hereditary Breast and Ovarian Cancer Syndrome
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
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134 2012
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States. 20927582 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity. 20513136 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2. 18607349 2008
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Functional assays for classification of BRCA2 variants of uncertain significance. 18451181 2008
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Prostate cancer in male BRCA1 and BRCA2 mutation carriers has a more aggressive phenotype. 18182994 2008
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression. 18497862 2008
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Computational and structural investigation of deleterious functional SNPs in breast cancer BRCA2 gene. 18724707 2008
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. 19043619 2008
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Functional assays for BRCA1 and BRCA2. 16978908 2007
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. 16489001 2006
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. 15695382 2005
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. 15290653 2004
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons. 11207042 2001