| Literature DB >> 18495334 |
Alessandra Avezzù1, Marco Agostini, Salvatore Pucciarelli, Mauro Lise, Emanuele Damiano Urso, Isabella Mammi, Isacco Maretto, Maria Vittoria Enzo, Chiara Pastrello, Mario Lise, Donato Nitti, Alessandra Viel.
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.Entities:
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Year: 2008 PMID： 18495334 DOI： 10.1016/j.canlet.2008.04.004
Source DB: PubMed Journal: Cancer Lett ISSN： 0304-3835 Impact factor: 8.679