| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | GeneticVariation | 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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G | 0.700 | GeneticVariation | CLINVAR | BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. | 29339979 | 2018 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. | 28102861 | 2017 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. | 27433846 | 2016 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. | 27836010 | 2016 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Genetic testing in a cohort of young patients with HER2-amplified breast cancer. | 26681682 | 2016 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. | 25452441 | 2015 |
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|
G | 0.700 | GeneticVariation | 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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|
G | 0.700 | GeneticVariation | 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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G | 0.700 | GeneticVariation | CLINVAR | Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes. | 21735045 | 2012 |
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G | 0.700 | GeneticVariation | CLINVAR | A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer. | 14647210 | 2003 |
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|
G | 0.700 | CausalMutation | CLINVAR |