Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
C | 0.700 | CausalMutation | CLINVAR | The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation. | 11278247 | 2001 |
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C | 0.700 | CausalMutation | CLINVAR | Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. | 11320250 | 2001 |
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|
C | 0.700 | CausalMutation | CLINVAR | BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age. | 11389159 | 2001 |
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C | 0.700 | CausalMutation | CLINVAR | BRCA1 physically and functionally interacts with ATF1. | 10945975 | 2000 |
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|
C | 0.700 | CausalMutation | CLINVAR | Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. | 10788334 | 2000 |
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|
C | 0.700 | CausalMutation | CLINVAR | The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain. | 9525870 | 1998 |
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|
C | 0.700 | CausalMutation | CLINVAR | Human BRCA1 inhibits growth in yeast: potential use in diagnostic testing. | 9159158 | 1997 |
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C | 0.700 | CausalMutation | CLINVAR | Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. | 7795652 | 1995 |
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C | 0.700 | CausalMutation | CLINVAR | Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. | 7894493 | 1994 |