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Article

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Accepted version

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2010-12-07

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Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/147246

A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

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https://doi.org/10.1038/sj.bjc.6605966

Abstract

Background: defective DNA repair has a causal role in hereditary colorectal cancer (CRC). Defects in the base excision repair gene MUTYH are responsible for MUTYH-associated polyposis and CRC predisposition as an autosomal recessive trait. Numerous reports have suggested MUTYH mono-allelic variants to be low penetrance risk alleles. We report a large collaborative meta-analysis to assess and refine CRC risk estimates associated with bi-allelic and mono-allelic MUTYH variants and investigate age and sex influence on risk. Methods: MUTYH genotype data were included from 20 565 cases and 15 524 controls. Three logistic regression models were tested: a crude model; adjusted for age and sex; adjusted for age, sex and study. Results: all three models produced very similar results. MUTYH bi-allelic carriers demonstrated a 28-fold increase in risk (95% confidence interval (CI): 6.95-115). Significant bi-allelic effects were also observed for G396D and Y179C/G396D compound heterozygotes and a marginal mono-allelic effect for variant Y179C (odds ratio (OR)=1.34; 95% CI: 1.00-1.80). A pooled meta-analysis of all published and unpublished datasets submitted showed bi-allelic effects for MUTYH, G396D and Y179C (OR=10.8, 95% CI: 5.02-23.2; OR=6.47, 95% CI: 2.33-18.0; OR=3.35, 95% CI: 1.14-9.89) and marginal mono-allelic effect for variants MUTYH (OR=1.16, 95% CI: 1.00-1.34) and Y179C alone (OR=1.34, 95% CI: 1.01-1.77). Conclusions: overall, this large study refines estimates of disease risk associated with mono-allelic and bi-allelic MUTYH carriers.

Subject

Càncer colorectal, Genètica, ADN

Subject (English)

Colorectal cancer, Genetics, DNA

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Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citation

THEODORATOU, Evropi, et al. A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. British Journal of Cancer. 2010. Vol. 103, num. 12, pags. 1875-1884. ISSN 0007-0920. [consulted: 12 of August of 2026]. Available at: https://hdl.handle.net/2445/147246

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