Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
G | 0.700 | GeneticVariation | CLINVAR | Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria. | 23772696 | 2014 |
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G | 0.700 | GeneticVariation | CLINVAR | Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer. | 23192404 | 2013 |
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G | 0.700 | GeneticVariation | CLINVAR | BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. | 22711857 | 2012 |
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G | 0.700 | GeneticVariation | CLINVAR | Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. | 22006311 | 2011 |
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|
G | 0.700 | GeneticVariation | CLINVAR | A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. | 21702907 | 2011 |
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G | 0.700 | GeneticVariation | CLINVAR | Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | 20104584 | 2010 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | 16267036 | 2005 |
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G | 0.700 | GeneticVariation | CLINVAR | BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. | 9145677 | 1997 |
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G | 0.700 | GeneticVariation | CLINVAR | New Austrian mutation in BRCA1 gene detected in three unrelated HBOC families. | 8622478 | 1996 |
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G | 0.700 | CausalMutation | CLINVAR |