Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework
| Autor: | Marc S. Greenblatt, Deborah I. Ritter, Matthew J. Ferber, Jennifer McGlaughon, Kristy Lee, Ryan J. Schmidt, Bryony A. Thompson, Bryce A. Seifert, Maegan E. Roberts, Liying Zhang, Mackenzie Trapp, Sharisse Jimenez, Sarah A. Jackson, Sharon E. Plon, Zsofia K. Stadler, Kenneth Offit |
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| Rok vydání: | 2019 |
| Předmět: |
ClinGen
0301 basic medicine validity medicine.medical_specialty Colorectal cancer Adenomatous polyposis coli Susceptibility gene 030105 genetics & heredity Risk Assessment Genome Article 03 medical and health sciences Internal medicine medicine cancer Humans Genetic Predisposition to Disease Clinical significance Genetic Testing Genetic Association Studies Genetics (clinical) Genetic testing Models Genetic medicine.diagnostic_test biology business.industry Cancer medicine.disease 3. Good health 030104 developmental biology classification Adenomatous Polyposis Coli NGS Clinical validity biology.protein Colorectal Neoplasms business |
| Zdroj: | Genetics in medicine : official journal of the American College of Medical Genetics |
| ISSN: | 1098-3600 |
| Popis: | 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, and 3/42 (7.1%) were either No Reported Evidence, Disputed, or Refuted. Of panels in the NIH Genetic Testing Registry, 4/26 (~15.4%) contain genes with Limited clinical evidence. Conclusion: Clinicians and laboratory diagnosticians should note that 40% have only Moderate, Limited, Disputed, or Refuted evidence. Continuing to expand the structured assessment of the clinical relevance of genes listed on hereditary cancer testing panels will help clinicians and diagnostic laboratories focus the communication of genetic testing results on clinically significant genes. |
| Databáze: | OpenAIRE |
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