| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication. | 28802053 | 2018 |
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|
G | 0.700 | CausalMutation | CLINVAR | High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients. | 27553291 | 2016 |
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|
G | 0.700 | CausalMutation | 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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|
G | 0.700 | CausalMutation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 |
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|
G | 0.700 | CausalMutation | CLINVAR | Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. | 22505045 | 2012 |
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|
G | 0.700 | CausalMutation | CLINVAR | Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. | 16998791 | 2006 |
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|
G | 0.700 | CausalMutation | CLINVAR | Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. | 12955716 | 2003 |
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|
G | 0.700 | CausalMutation | CLINVAR | Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing. | 11802208 | 2002 |
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|
A | 0.700 | CausalMutation | CLINVAR | Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families. | 9391879 | 1997 |
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|
T | 0.700 | CausalMutation | CLINVAR |