The role of MYH gene in genetic predisposition to colorectal cancer: Another piece of the puzzle

Alessandra Avezzù, Marco Agostini, Salvatore Pucciarelli, Mauro Lise, Emanuele Damiano Urso, Isabella Mammi, Isacco Maretto, Maria Vittoria Enzo, Chiara Pastrello, Mario Lise, Donato Nitti, Alessandra Viel

Research output: Contribution to journalArticlepeer-review

19 Scopus citations

Abstract

Biallelic germline mutations in the MYH gene cause MYH-Associated Polyposis but patients with a single mutation possibly have an increased colorectal cancer (CRC) risk. Using DNA from consecutive CRC patients we carried out a case-control study, with the aim to contribute data on the Italian population. Genotyping of four MYH mutations found two biallelic and two monoallelic carriers among 439 cases, and only one heterozygous individual among 247 age-matched controls. The frequencies of the mutant alleles were 0.68% (6/878) and 0.20% (1/494), respectively. These differences were not statistically significant. Results on the monoallelic carriers were combined with those from 11 studies on other populations, and the risk of developing a CRC was estimated with an OR = 1.11 (95% CI = 0.90; 1.36), yet not reaching a significant evidence of increased CRC risk.

Original languageEnglish (US)
Pages (from-to)308-313
Number of pages6
JournalCancer Letters
Volume268
Issue number2
DOIs
StatePublished - Sep 18 2008

Keywords

  • Colorectal cancer
  • MYH
  • Polyposis

ASJC Scopus subject areas

  • Cancer Research
  • Molecular Biology
  • Oncology

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