| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. | 27836010 | 2016 |
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|
C | 0.700 | CausalMutation | CLINVAR | Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy. | 26296701 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early-onset breast/ovarian cancer from Tunisia. | 24372583 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. | 24728189 | 2014 |
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|
C | 0.700 | CausalMutation | CLINVAR | Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases. | 23536787 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence. | 23479189 | 2013 |
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|
C | 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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|
C | 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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|
C | 0.700 | CausalMutation | CLINVAR | The usefulness of antibodies to the BRCA1 protein in detecting the mutated BRCA1 gene. An immunohistochemical study. | 11376024 | 2001 |
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|
C | 0.700 | CausalMutation | CLINVAR | A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. | 9150151 | 1997 |