Somatic mutation of MutYH in Tunisian patients with sporadic colorectal cancer
Journal of Clinical Laboratory Analysis2007Vol. 21(6), pp. 372–374
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Karim Bougatef, Raja Marrakchi, Nadia Kourda, Yannick Blondeau Lahely, Sarra Baltagi Ben Jileni, Houssein Khodjet‐El‐Khil, Florent Soubrier, Amel Ben Ammar Elgaaïed
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.
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