Risk of Colorectal Cancer for Carriers of Mutations in MUTYH, with and Without a Family History of Cancer

Overview

Journal Gastroenterology

Specialty Gastroenterology

Date 2014 Jan 22

PMID 24444654

Citations 103

Authors

Aung Ko Win

James G Dowty

Sean P Cleary

Hyeja Kim

Daniel D Buchanan

Joanne P Young

Mark Clendenning

Christophe Rosty

Robert J MacInnis

Graham G Giles

Alex Boussioutas

Finlay A Macrae

Susan Parry

Jack Goldblatt

John A Baron

Terrilea Burnett

Loic Le Marchand

Polly A Newcomb

Robert W Haile

John L Hopper

Michelle Cotterchio

Steven Gallinger

Noralane M Lindor

Katherine M Tucker

Ingrid M Winship

Mark A Jenkins

Affiliations

Soon will be listed here.

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.

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