Source: INFERRED ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | GeneticVariation | CLINVAR | The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing. | 28294317 | 2017 |
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|
T | 0.700 | GeneticVariation | CLINVAR | BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer. | 28176296 | 2017 |
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|
T | 0.700 | GeneticVariation | 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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|
T | 0.700 | GeneticVariation | CLINVAR | Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | 26681312 | 2016 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. | 26187060 | 2016 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Deleterious BRCA1/2 mutations in an urban population of Black women. | 26250392 | 2015 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes. | 25639900 | 2015 |
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|
T | 0.700 | GeneticVariation | CLINVAR | A high frequency of BRCA mutations in young black women with breast cancer residing in Florida. | 26287763 | 2015 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Prevalence and differentiation of hereditary breast and ovarian cancers in Japan. | 24249303 | 2015 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Clear cell sarcoma of the kidney in a child with Fanconi anemia. | 24735155 | 2014 |
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|
T | 0.700 | GeneticVariation | CLINVAR | BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela. | 23096355 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Hereditary inflammatory breast cancer associated with BRCA2 mutation: a rare disease presentation in mother and daughter. | 22895246 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. | 21702907 | 2011 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. | 19043619 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene? | 16170354 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families. | 16528604 | 2006 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. | 16489001 | 2006 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Cancer variation associated with the position of the mutation in the BRCA2 gene. | 15131399 | 2004 |