Prevalence of Germline Mutations in Polyposis and Colorectal Cancer–Associated Genes in Patients With Multiple Colorectal Polyps

• Published in: Clinical gastroenterology and hepatology Vol. 17; no. 10; pp. 2008 - 2015.e3
• Main Authors: Stanich, Peter P., Pearlman, Rachel, Hinton, Alice, Gutierrez, Stephanie, LaDuca, Holly, Hampel, Heather, Jasperson, Kory
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.09.2019
• Subjects: Adenomatous Polyposis Coli; Gastroenterology and Hepatology; Genetic Analysis; Hereditary Neoplastic Syndromes; Prognostic Factor; Hereditary Neoplastic Syndromes; MGPT; NGS; Genetic Analysis; Adenomatous Polyposis Coli; Prognostic Factor; next-generation sequencing; multigene panel testing

Guidelines recommend genetic testing of patients with 10 or more cumulative adenomatous polyps. However, little is known about the utility of these tests—especially for older patients. We aimed to determine the prevalence of pathogenic mutations in patients with multiple colorectal polyps, stratifie...