Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
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

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

Copyright © 2014 AGA Institute. Published by Elsevier Inc. All rights reserved.

KEYWORDS:

Base Excision Repair Gene; Colon Cancer; DNA Damage Response; Genetics

PMID:
24444654
[PubMed - indexed for MEDLINE]
PMCID:
PMC3992182
[Available on 2015/5/1]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk