| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 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 |
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|
T | 0.700 | CausalMutation | CLINVAR | Two BRCA1/2 founder mutations in Jews of Sephardic origin. | 21063910 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding. | 19404736 | 2010 |
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|
T | 0.700 | CausalMutation | CLINVAR | Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. | 20516115 | 2010 |
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|
T | 0.700 | CausalMutation | CLINVAR | High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. | 17080309 | 2007 |
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|
T | 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 |
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|
T | 0.700 | CausalMutation | CLINVAR | Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants. | 15923272 | 2006 |
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|
T | 0.700 | CausalMutation | CLINVAR | Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations. | 15340362 | 2004 |
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|
T | 0.700 | CausalMutation | CLINVAR | Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. | 12955716 | 2003 |