| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia. | 28664506 | 2017 |
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|
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 | Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. | 25782689 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | Functional isogenic modeling of BRCA1 alleles reveals distinct carrier phenotypes. | 26246475 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer. | 25716084 | 2015 |
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|
C | 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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|
C | 0.700 | CausalMutation | CLINVAR | Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. | 23199084 | 2010 |
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|
C | 0.700 | CausalMutation | CLINVAR | Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination. | 20103620 | 2010 |
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|
C | 0.700 | CausalMutation | CLINVAR | A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients. | 20215541 | 2010 |
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|
C | 0.700 | CausalMutation | CLINVAR | BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families. | 10508480 | 1999 |