| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers. | 30093976 | 2018 |
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|
T | 0.700 | CausalMutation | CLINVAR | The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. | 25863477 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Inherited predisposition to breast cancer among African American women. | 25428789 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Functional characterization of BRCA1 gene variants by mini-gene splicing assay. | 24667779 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | Earlier age of onset of BRCA mutation-related cancers in subsequent generations. | 21913181 | 2012 |
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|
T | 0.700 | CausalMutation | 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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|
T | 0.700 | CausalMutation | CLINVAR | Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs. | 18693280 | 2009 |
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|
T | 0.700 | CausalMutation | CLINVAR | Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. | 19491284 | 2009 |
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|
T | 0.700 | CausalMutation | CLINVAR | Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. | 18159056 | 2007 |
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|
T | 0.700 | CausalMutation | 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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|
T | 0.700 | CausalMutation | CLINVAR | A BRCA1 variant, IVS23+1G-->A, causes abnormal RNA splicing by deleting exon 23. | 11428389 | 2001 |