✦ LIBER ✦

Somatic mutation of MutYH in Tunisian patients with sporadic colorectal cancer

✍ Scribed by Karim Bougatef; Raja Marrakchi; Nadia Kourda; Yannick Blondeau Lahely; Sarra Baltagi Ben Jileni; Houssein K. El Khil; Florent Soubrier; Amel Ben Ammar Elgaaied

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 181 KB
Volume: 21
Category: Article
ISSN: 0887-8013
DOI: 10.1002/jcla.20198

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✦ Synopsis

Abstract

The MutYH gene is an adenine‐specific DNA glycosylase that prevents G/T transversions. Germline mutation in this gene causes MYH‐associated polyposis (MAP) that predispose to hereditary colorectal cancer (CRC). This study describes for the first time the association of the MutYH mutation with sporadic CRC. From the 48 Tunisian sporadic CRC cases analyzed, two patients showed somatic mutation of the MutYH gene. In addition, the two hotspot germline mutations MutYH Y165C and G382D seem to be infrequent in sporadic CRC. J. Clin. Lab. Anal. 21:372–374, 2007. © 2007 Wiley‐Liss, Inc.

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