rs80359014, BRCA2

N. diseases: 10
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 CausalMutation CLINVAR
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 An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance. 25146914 2014
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
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 Functional assays for classification of BRCA2 variants of uncertain significance. 18451181 2008
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
0.700 CausalMutation CLINVAR
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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
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 A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing. 25948282 2015
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.700 CausalMutation CLINVAR
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 GeneticVariation CLINVAR Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. 19043619 2008
Nephroblastoma
CUI: C0027708
Disease: Nephroblastoma
0.700 CausalMutation CLINVAR
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
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 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
GLIOMA SUSCEPTIBILITY 3
CUI: C2751641
Disease: GLIOMA SUSCEPTIBILITY 3
0.700 CausalMutation CLINVAR
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. 19043619 2008
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population. 21232165 2011
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 GeneticVariation CLINVAR New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing. 25948282 2015
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population. 21232165 2011