Familial Cancer

, Volume 10, Issue 1, pp 1–9

Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis


DOI: 10.1007/s10689-010-9399-5

Cite this article as:
Win, A.K., Hopper, J.L. & Jenkins, M.A. Familial Cancer (2011) 10: 1. doi:10.1007/s10689-010-9399-5


Whether people who inherit a mutation in MUTYH from only one parent (monoallelic mutation) are at increased risk of colorectal cancer (CRC) remains controversial. Most previous studies and meta-analyses have not found statistically significant associations but, given carriers are relatively rare, may be underpowered to detect small increased risks. We have conducted a systematic review and meta-regression analysis of previously published case–control studies to estimate the strength of association for monoallelic MUTYH mutation and CRC risk. Potential sources of heterogeneity were evaluated. We have compared the carrier frequency in cases with a family history of CRC to that of controls, as a novel and powerful design, to measure statistical evidence of an association but not the strength of association. The magnitude of the genotype-disease association, estimated from a pooled odds ratio comparing cases unselected for family history with controls, was 1.15 (95% CI = 0.98–1.36) and not substantially altered by adjustment for potential sources of heterogeneity. Monoallelic mutation carrier frequency was greater for cases ascertained due to a family history (3.3%; SE 0.9%) than for controls (1.4%; SE 0.3%) (P = 0.02). Monoallelic MUTYH mutation carriers are at increased risk of CRC but the average increase is small.


MUTYHColorectal cancerFamily history



Colorectal cancer


Hereditary non-polyposis colorectal cancer


Human MutY homologue


Mismatch repair


Familial adenomatous polyposis


Adenomatous polyposis coli


Inflammatory bowel disease


Confidence interval


Odds ratio


Standard error

Supplementary material

10689_2010_9399_MOESM1_ESM.pdf (53 kb)
Supplementary material 1 (PDF 53 kb)

Copyright information

© Springer Science+Business Media B.V. 2010

Authors and Affiliations

  • Aung Ko Win
    • 1
  • John L. Hopper
    • 1
  • Mark A. Jenkins
    • 1
  1. 1.Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population HealthThe University of MelbourneMelbourneAustralia