BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359152
rs80359152
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		A 0.700 GeneticVariation CLINVAR A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population. 25884701 2015
dbSNP: rs80359152
rs80359152
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		A 0.700 GeneticVariation CLINVAR Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX. 25628955 2015
dbSNP: rs80359152
rs80359152
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		A 0.700 GeneticVariation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752 2014
dbSNP: rs80359152
rs80359152
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		A 0.700 GeneticVariation CLINVAR Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations. 25348012 2014
dbSNP: rs80359152
rs80359152
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		A 0.700 GeneticVariation CLINVAR Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants. 24123850 2014
dbSNP: rs80359152
rs80359152
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		A 0.700 GeneticVariation CLINVAR A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138 2013
dbSNP: rs80359152
rs80359152
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		A 0.700 GeneticVariation CLINVAR Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2. 23704879 2013
dbSNP: rs80359152
rs80359152
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		A 0.700 GeneticVariation CLINVAR BRCA2 localization to the midbody by filamin A regulates cep55 signaling and completion of cytokinesis. 22771033 2012
dbSNP: rs80359152
rs80359152
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		A 0.700 GeneticVariation CLINVAR Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes. 22632462 2012
dbSNP: rs80359152
rs80359152
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		A 0.700 GeneticVariation CLINVAR Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay. 22678057 2012
dbSNP: rs80359152
rs80359152
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		A 0.700 GeneticVariation CLINVAR The BRCA2 c.9004G>A (E2002K) [corrected] variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent. 21947752 2012
dbSNP: rs80359152
rs80359152
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		A 0.700 GeneticVariation CLINVAR Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer. 20694749 2010
dbSNP: rs80359152
rs80359152
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		A 0.700 GeneticVariation CLINVAR Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. 19043619 2008
dbSNP: rs80359152
rs80359152
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		A 0.700 GeneticVariation CLINVAR Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients. 18284688 2008
dbSNP: rs80359152
rs80359152
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		A 0.700 CausalMutation CLINVAR