| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. | 26586665 | 2016 |
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|
T | 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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|
T | 0.700 | CausalMutation | CLINVAR | Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. | 22144684 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. | 21120943 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. | 21324516 | 2011 |
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|
T | 0.700 | CausalMutation | 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 |
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|
T | 0.700 | CausalMutation | CLINVAR | Telomerase immortalization of human mammary epithelial cells derived from a BRCA2 mutation carrier. | 16541310 | 2006 |
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|
T | 0.700 | CausalMutation | CLINVAR | Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. | 11597388 | 2001 |
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|
T | 0.700 | CausalMutation | CLINVAR | BRCA2 mutations in hereditary breast and ovarian cancer in France. | 9150172 | 1997 |