rs80359014, BRCA2
N. diseases: 10
Source: ALL
| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer. | 29368341 | 2018 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. | 25452441 | 2015 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | 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 | GeneticVariation | 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 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 | GeneticVariation | 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 | GeneticVariation | CLINVAR | The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population. | 21232165 | 2011 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland. | 20383589 | 2010 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | 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 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
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 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | Functional assays for classification of BRCA2 variants of uncertain significance. | 18451181 | 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 | Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. | 19043619 | 2008 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. | 17924331 | 2007 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. | 17924331 | 2007 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure. | 10699917 | 2000 |