Win, A.Dowty, J.Cleary, S.Kim, H.Buchanan, D.Young, J.Clendenning, M.Rosty, C.MacInnis, R.Giles, G.Boussioutas, A.MaCrae, F.Parry, S.Goldblatt, J.Baron, J.Burnett, T.Le Marchand, L.Newcomb, P.Haile, R.Hopper, J.et al.2015-05-252015-05-252014Gastroenterology, 2014; 146(5):1208-12110016-50851528-0012http://hdl.handle.net/2440/91329We 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.en© 2014 AGA Institute.Colon Cancer; Genetics; Base Excision Repair Gene; DNA Damage ResponseJournal article003001200710.1053/j.gastro.2014.01.0220003345076000212-s2.0-84899413123143918Young, J. [0000-0002-1514-1522]