| Literature DB >> 24444654 |
Aung Ko Win1, James G Dowty1, Sean P Cleary2, Hyeja Kim2, Daniel D Buchanan3, Joanne P Young3, Mark Clendenning3, Christophe Rosty4, Robert J MacInnis5, Graham G Giles5, Alex Boussioutas6, Finlay A Macrae7, Susan Parry8, Jack Goldblatt9, John A Baron10, Terrilea Burnett11, Loïc Le Marchand11, Polly A Newcomb12, Robert W Haile13, John L Hopper1, Michelle Cotterchio14, Steven Gallinger2, Noralane M Lindor15, Katherine M Tucker16, Ingrid M Winship17, Mark A Jenkins18.
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.Entities:
Keywords: Base Excision Repair Gene; Colon Cancer; DNA Damage Response; Genetics
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Year: 2014 PMID： 24444654 PMCID： PMC3992182 DOI： 10.1053/j.gastro.2014.01.022
Source DB: PubMed Journal: Gastroenterology ISSN： 0016-5085 Impact factor: 22.682