Journal article

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.

Bryce A Seifert, Jennifer L McGlaughon, Sarah A Jackson, Deborah I Ritter, Maegan E Roberts, Ryan J Schmidt, Bryony A Thompson, Sharisse Jimenez, Mackenzie Trapp, Kristy Lee, Sharon E Plon, Kenneth Offit, Zsofia K Stadler, Liying Zhang, Marc S Greenblatt, Matthew J Ferber

Genetics in Medicine | Published : 2019


PURPOSE: Gene-disease associations implicated in hereditary colorectal cancer and polyposis susceptibility were evaluated using the ClinGen Clinical Validity framework. METHODS: Forty-two gene-disease pairs were assessed for strength of evidence supporting an association with hereditary colorectal cancer and/or polyposis. Genetic and experimental evidence supporting each gene-disease relationship was curated independently by two trained biocurators. Evidence was reviewed with experts and assigned a final clinical validity classification. RESULTS: Of all gene-disease pairs evaluated, 14/42 (33.3%) were Definitive, 1/42 (2.4%) were Strong, 6/42 (14.3%) were Moderate, 18/42 (42.9%) were Limited..

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University of Melbourne Researchers