| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
GT | 0.700 | CausalMutation | CLINVAR | Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. | 25186627 | 2015 |
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|
GT | 0.700 | CausalMutation | CLINVAR | Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. | 24504028 | 2014 |
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|
GT | 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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|
GT | 0.700 | CausalMutation | CLINVAR | Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1. | 18992264 | 2009 |
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|
GT | 0.700 | CausalMutation | CLINVAR | Direct interaction between BRCA1 and the estrogen receptor regulates vascular endothelial growth factor (VEGF) transcription and secretion in breast cancer cells. | 12400015 | 2002 |
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|
GT | 0.700 | CausalMutation | CLINVAR | BRCA1-induced large-scale chromatin unfolding and allele-specific effects of cancer-predisposing mutations. | 11739404 | 2001 |
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|
GT | 0.700 | CausalMutation | CLINVAR | Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. | 10811118 | 2000 |
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|
GT | 0.700 | CausalMutation | CLINVAR | The C-terminal (BRCT) domains of BRCA1 interact in vivo with CtIP, a protein implicated in the CtBP pathway of transcriptional repression. | 9738006 | 1998 |
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|
GT | 0.700 | CausalMutation | CLINVAR | Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. | 7894493 | 1994 |