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

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, Loïc Le Marchand, Polly A Newcomb, Robert W C Haile, John L. HopperMichelle Cotterchio, Steven Gallinger, Noralane M Lindor, Katherine M. Tucker, Ingrid M. Winship, Mark A. Jenkins

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144 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1208-1211
Number of pages9
Issue number5
Publication statusPublished - May 2014
Externally publishedYes


  • Base Excision Repair Gene
  • Colon Cancer
  • DNA Damage Response
  • Genetics
  • Keywords

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