source: Gastroenterology

year: 2014

authors: Win A K, Dowty J G, Cleary S P, Kim H, Buchanan D D, Young J P, Clendenning M, Rosty C, MacInnis R J, Giles G G, Boussioutas A, Macrae F A, Parry S, Goldblatt J, Baron J A, Burnett T, Le Marchand L, Newcomb P A, Haile R W, Hopper J L, Cotterchio M, Gallinger S, Lindor N M, Tucker K M, Winship I M, Jenkins M A

We studied 2332 individuals with monoallelic mutations in MUTYH among 9504 relatives of 264 colorectal cancer (CRC) cases with a MUTYH mutation. We estimated CRC risks through 70 years of age of 7.2% for male carriers of monoallelic mutations (95% confidence interval [CI], 4.6%-11.3%) and 5.6% for female carriers of monoallelic mutations (95% CI, 3.6%-8.8%), irrespective of family history. For monoallelic MUTYH mutation carriers with a first-degree relative with CRC diagnosed by 50 years of age who does not have the MUTYH mutation, risks of CRC were 12.5% for men (95% CI, 8.6%-17.7%) and 10% for women (95% CI, 6.7%-14.4%). Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relative with CRC are sufficiently high to warrant more intensive screening than for the general population