Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer

AK Win; JG Dowty; SP Cleary; H Kim; DD Buchanan; JP Young; M Clendenning; C Rosty; RJ Macinnis; GG Giles; A Boussioutas; FA Macrae; S Parry; J Goldblatt; JA Baron; T Burnett; L Le Marchand; PA Newcomb; RW Haile; JL Hopper; M Cotterchio; S Gallinger; NM Lindor; KM Tucker; IM Winship; MA Jenkins

Journal article

Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer

AK Win, JG Dowty, SP Cleary, H Kim, DD Buchanan, JP Young, M Clendenning, C Rosty, RJ Macinnis, GG Giles, A Boussioutas, FA Macrae, S Parry, J Goldblatt, JA Baron, T Burnett, L Le Marchand, PA Newcomb, RW Haile, JL Hopper Show all

Gastroenterology | W B SAUNDERS CO-ELSEVIER INC | Published : 2014

DOI: 10.1053/j.gastro.2014.01.022

Download PDF

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 fi..

View full abstract

University of Melbourne Researchers

Aung Ko Win Author

James Dowty Author

Daniel Buchanan Author

Mark Clendenning Author

Related Projects (2)

CENTRE OF RESEARCH EXCELLENCE FOR REDUCING THE BURDEN OF COLORECTAL CANCER BY OPTIMISING SCREENING:EVIDENCE OF CLINICAL PRACTICE

Bowel cancer, the second most diagnosed and cause of cancer death is preventable. Low risk people need no screening or just inexpensive feca..

COMPREHENISVE MODEL FOR COLORECTAL CANCER RISK

I am a genetic epidemiologist focused on bowel cancer risk. I will develop a comprehensive model to estimate individual cancer risk by study..

Grants

Awarded by National Institutes of Health

Funding Acknowledgements

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.