| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan. | 29176636 | 2018 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | 29446198 | 2018 |
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|
A | 0.700 | CausalMutation | CLINVAR | Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study. | 29337092 | 2018 |
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|
A | 0.700 | CausalMutation | CLINVAR | BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers. | 28831036 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability. | 28591191 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population. | 25884701 | 2015 |
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|
A | 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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|
A | 0.700 | CausalMutation | CLINVAR | Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population. | 11595708 | 2001 |