@article{d09cf476ac1c4269b5c9b9228cdf9c6d,
title = "Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer",
abstract = "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.",
keywords = "Base Excision Repair Gene, Colon Cancer, DNA Damage Response, Genetics, Keywords",
author = "Win, {Aung Ko} and Dowty, {James G.} and Cleary, {Sean P.} and Hyeja Kim and Buchanan, {Daniel D.} and Young, {Joanne P.} and Mark Clendenning and Christophe Rosty and Macinnis, {Robert J.} and Giles, {Graham G.} and Alex Boussioutas and Macrae, {Finlay A.} and Susan Parry and Jack Goldblatt and Baron, {John A.} and Terrilea Burnett and {Le Marchand}, Lo{\"i}c and Newcomb, {Polly A.} and Haile, {Robert W.} and Hopper, {John L.} and Michelle Cotterchio and Steven Gallinger and Lindor, {Noralane M.} and Tucker, {Katherine M.} and Winship, {Ingrid M.} and Jenkins, {Mark A.}",
note = "Funding Information: Funding This work was supported by the National Cancer Institute , National Institutes of Health under RFA #CA-95-011 and through cooperative agreements with members of the Colon Cancer Family Registry and Principal Investigators. Collaborating centers include Australasian Colorectal Cancer Family Registry (U01 CA097735), Familial Colorectal Neoplasia Collaborative Group (U01 CA074799) [USC], Mayo Clinic Cooperative Family Registry for Colon Cancer Studies (U01 CA074800), Ontario Registry for Studies of Familial Colorectal Cancer (U01 CA074783), Seattle Colorectal Cancer Family Registry (U01 CA074794), and University of Hawaii Colorectal Cancer Family Registry (U01 CA074806). This work was also supported by a grant from the National Cancer Institute, Bethesda, MD (R01CA170122) and a Centre for Research Excellence grant from the National Health and Medical Research Council (NHMRC), Australia (APP1042021). AKW is supported by the Picchi Brothers Foundation Cancer Council Victoria Cancer Research Scholarship , Australia. MAJ is an NHMRC Senior Research Fellow. JLH is a NHMRC Senior Principal Research Fellow. CR is a Jass Pathology Fellow. ",
year = "2014",
month = may,
doi = "10.1053/j.gastro.2014.01.022",
language = "English (US)",
volume = "146",
pages = "1208--1211.e5",
journal = "Gastroenterology",
issn = "0016-5085",
publisher = "W.B. Saunders Ltd",
number = "5",
}