| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts. | 27273229 | 2017 |
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|
A | 0.700 | GeneticVariation | 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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|
A | 0.700 | GeneticVariation | CLINVAR | Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. | 27329137 | 2016 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. | 25559809 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. | 24362816 | 2014 |
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|
A | 0.700 | GeneticVariation | CLINVAR | A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. | 22949379 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. | 22949379 | 2013 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Feasibility of screening for Lynch syndrome among patients with colorectal cancer. | 18809606 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Feasibility of screening for Lynch syndrome among patients with colorectal cancer. | 18809606 | 2008 |