No evidence of the APC D1822V missense variant's pathogenicity in Tunisian patients with sporadic colorectal cancer.

Abstract

OBJECTIVES Sporadic colorectal cancer is influenced by numerous single nucleotide polymorphisms (SNPs), each with minor effects on the cancer risk. This study seeks to determine whether there is any association of the I1307K, E1317Q and D1822V variants within the Adenomatous polyposis coli gene (APC) and risk to develop colorectal cancer in Tunisian population. METHODS Direct sequencing was used to investigate three SNPs in the APC in 48 Tunisian sporadic colorectal cancer cases and 63 controls. RESULTS There was no statistically significant association between the I1307K, E1317Q and D1822V variants investigated and colorectal cancer risk. CONCLUSION The lack of association may show that these variants selected for this study are not involved in the colorectal carcinogenic process. Otherwise, the eventual biological effect is so little to go undetected, unless increasing the sample size.

DOI: 10.1016/j.patbio.2008.01.004

Cite this paper

@article{Bougatef2009NoEO, title={No evidence of the APC D1822V missense variant's pathogenicity in Tunisian patients with sporadic colorectal cancer.}, author={Karim Bougatef and Raja Triki Marrakchi and Slah Ouerhani and Rim Sassi and Amel Moussa and Nadia Kourda and Yannick Blondeau Lahely and Taoufik Najjar and Sarra Baltagi Ben Jilani and Florent Soubrier and Amel Ben Ammar Elgaaied}, journal={Pathologie-biologie}, year={2009}, volume={57 3}, pages={e67-71} }