| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. | 31131967 | 2019 |
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|
C | 0.700 | CausalMutation | CLINVAR | Evaluation of BRCA12 mutational status among German and Austrian women with triple-negative breast cancer. | 25971625 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. | 25863477 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence. | 23479189 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants. | 21523855 | 2011 |
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|
C | 0.700 | CausalMutation | CLINVAR | Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer. | 18627636 | 2008 |
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|
C | 0.700 | CausalMutation | CLINVAR | A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. | 16683254 | 2006 |
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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 | CausalMutation | CLINVAR | Implications of a novel cryptic splice site in the BRCA1 gene. | 9805131 | 1998 |