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Gastroenterology. 2014 May;146(5):1208-11.e1-5. doi: 10.1053/j.gastro.2014.01.022. Epub 2014 Jan 17.

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

Author information

1
Centre for Epidemiology and Biostatistics, The University of Melbourne, Parkville, Victoria, Australia.
2
Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada; Cancer Care Ontario, Toronto, Ontario, Canada.
3
Cancer and Population Studies Group, Queensland Institute of Medical Research, Bancroft Centre, Herston, Queensland, Australia.
4
Cancer and Population Studies Group, Queensland Institute of Medical Research, Bancroft Centre, Herston, Queensland, Australia; Department of Molecular and Cellular Pathology, University of Queensland, Herston, Queensland, Australia; Envoi Specialist Pathologists, Herston, Queensland, Australia.
5
Centre for Epidemiology and Biostatistics, The University of Melbourne, Parkville, Victoria, Australia; Cancer Epidemiology Centre, Cancer Council Victoria, Carlton, Victoria, Australia.
6
Department of Medicine, The University of Melbourne, Parkville, Victoria, Australia; Cancer Genomics and Predictive Medicine, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, Victoria, Australia.
7
Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Parkville, Victoria, Australia.
8
New Zealand Familial Gastrointestinal Cancer Registry, Auckland City Hospital, Auckland, New Zealand; Department of Gastroenterology, Middlemore Hospital, Auckland, New Zealand.
9
Genetic Services and Familial Cancer Program of Western Australia and School of Paediatrics and Child Health, University of Western Australia, Perth, Australia.
10
Department of Medicine, University of North Carolina, Chapel Hill, North Carolina.
11
University of Hawaii Cancer Center, Honolulu, Hawaii.
12
Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, Washington.
13
Department of Medicine, Division of Oncology, Stanford University, California.
14
Cancer Care Ontario, Toronto, Ontario, Canada.
15
Department of Health Science Research, Mayo Clinic Arizona, Scottsdale, Arizona.
16
Hereditary Cancer Clinic, Prince of Wales Hospital, Randwick, New South Wales, Australia.
17
Department of Medicine, The University of Melbourne, Parkville, Victoria, Australia; Genetic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Australia.
18
Centre for Epidemiology and Biostatistics, The University of Melbourne, Parkville, Victoria, Australia. Electronic address: m.jenkins@unimelb.edu.au.

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

PMID:
24444654
PMCID:
PMC3992182
DOI:
10.1053/j.gastro.2014.01.022
[Indexed for MEDLINE]
Free PMC Article

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