Source: CLINVAR ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
C | 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 |
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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 | Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO). | 22762150 | 2012 |
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|
C | 0.700 | CausalMutation | CLINVAR | Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. | 22505045 | 2012 |
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C | 0.700 | CausalMutation | CLINVAR | Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2. | 18607349 | 2008 |
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C | 0.700 | CausalMutation | CLINVAR | Functional assays for classification of BRCA2 variants of uncertain significance. | 18451181 | 2008 |
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C | 0.700 | CausalMutation | CLINVAR | Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling. | 17262179 | 2007 |