Ontology highlight
ABSTRACT:
SUBMITTER: Win AK
PROVIDER: S-EPMC3992182 | biostudies-literature | 2014 May
REPOSITORIES: biostudies-literature
Win Aung Ko AK Dowty James G JG Cleary Sean P SP Kim Hyeja H Buchanan Daniel D DD Young Joanne P JP Clendenning Mark M Rosty Christophe C MacInnis Robert J RJ Giles Graham G GG Boussioutas Alex A Macrae Finlay A FA Parry Susan S Goldblatt Jack J Baron John A JA Burnett Terrilea T Le Marchand Loïc L Newcomb Polly A PA Haile Robert W RW Hopper John L JL Cotterchio Michelle M Gallinger Steven S Lindor Noralane M NM Tucker Katherine M KM Winship Ingrid M IM Jenkins Mark A MA
Gastroenterology 20140117 5
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 ...[more]