| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity. | 28531214 | 2017 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. | 28944238 | 2017 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. | 28514183 | 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 | 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 | Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study. | 26552419 | 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 | GeneticVariation | CLINVAR | Feasibility of screening for Lynch syndrome among patients with colorectal cancer. | 18809606 | 2008 |