Source: CLINVAR ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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G | 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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G | 0.700 | CausalMutation | CLINVAR | Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls. | 28111427 | 2017 |
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G | 0.700 | CausalMutation | CLINVAR | Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. | 28339459 | 2017 |
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G | 0.700 | CausalMutation | CLINVAR | BRCA1 and BRCA2 mutations in Japanese patients with ovarian, fallopian tube, and primary peritoneal cancer. | 26439132 | 2016 |
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G | 0.700 | CausalMutation | CLINVAR | Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. | 27741520 | 2016 |
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G | 0.700 | CausalMutation | CLINVAR | Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing. | 26757417 | 2016 |
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G | 0.700 | CausalMutation | CLINVAR | Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel. | 27157322 | 2016 |
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G | 0.700 | CausalMutation | CLINVAR | Prevalence and differentiation of hereditary breast and ovarian cancers in Japan. | 24249303 | 2015 |
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G | 0.700 | CausalMutation | CLINVAR | Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations. | 25348012 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). | 23683081 | 2013 |
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G | 0.700 | CausalMutation | 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 | CausalMutation | CLINVAR | The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. | 18703817 | 2008 |
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G | 0.700 | CausalMutation | CLINVAR | Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene. | 18424508 | 2008 |