Extracolonic Tumors in Patients with MUTYH-Associated Polyposis

Mutations in the MUTYH gene were first described in 2002 as a cause of colonic adenomatous polyposis; the clinical presentation is similar to that of the classic, attenuated form of familial adenomatous polyposis (FAP). Both FAP and hereditary nonpolyposis colorectal cancer (HNPCC) have been linked with excess risk for extracolonic cancers, but the degree of risk for such cancers from MUTYH-associated polyposis (MAP) has not been well described.

Now, researchers have retrospectively analyzed data from 276 patients with proven MAP (from 181 unrelated families) who had been referred to one of three genetics centers in Europe. Esophagogastroduodenoscopy had been performed in 150 of the patients; gastric adenomas were identified in 4 (3%) and du…