Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. | 26187060 | 2016 |
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|
A | 0.700 | CausalMutation | 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 |
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|
C | 0.700 | CausalMutation | CLINVAR | An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance. | 25146914 | 2014 |
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|
C | 0.700 | CausalMutation | CLINVAR | A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. | 23108138 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. | 21203900 | 2011 |
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|
C | 0.700 | CausalMutation | CLINVAR | A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. | 21719596 | 2011 |
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|
C | 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 |
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|
A | 0.700 | CausalMutation | CLINVAR | Detection of BRCA1 and BRCA2 mutations in a selected Hawaii population. | 21218378 | 2010 |
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|
C | 0.700 | CausalMutation | CLINVAR | Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. | 11802209 | 2002 |
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|
C | 0.700 | GeneticVariation | CLINVAR |