Establishing a diagnostic road map for MUTYH-associated polyposis.
The analysis of MUTYH-associated polyposis cases of the EPIPOLIP cohort confirms the importance of including serrated polyps in the diagnostic work-up of patients with oligopolyposis, suggests a role for screening polyps for the somatic c.34G>T KRAS mutation, and allows the implementation of a genetic testing strategy based on population data.
Authors' Affiliations: Departments of Clinical Cancer Prevention, Pathology, and Gastroenterology, Hepatology and Nutrition, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Ester
E
Borras
Melissa W
MW
Taggart
Patrick M
PM
Lynch
Eduardo
E
Vilar
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis* / Q000235:genetics*; D003111:Colonic Polyps / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D045647:DNA Glycosylases / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation
D045647:DNA Glycosylases; C061738:mutY adenine glycosylase