Open AccessSomatic mutation of MutYH in Tunisian patients with sporadic colorectal cancer
Author(s) -
Bougatef Karim,
Marrakchi Raja,
Kourda Nadia,
Lahely Yannick Blondeau,
Jileni Sarra Baltagi Ben,
El Khil Houssein K.,
Soubrier Florent,
Ammar Elgaaied Amel Ben
Publication year - 2007
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.20198
Subject(s) - mutyh , germline mutation , germline , colorectal cancer , somatic cell , cancer research , mutation , medicine , gene , genetics , biology , cancer
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.