Somatic mutation of MutYH in Tunisian patients with sporadic colorectal 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.
Bougatef
Karim
K
Laboratoire de Génétique, Immunologie et Pathologies Humaines, Faculté des Sciences de Tunis, Campus Universitaire 2092, Tunis, Tunisia. karim.bougatef@fst.rnu.tn
Marrakchi
Raja
R
Kourda
Nadia
N
Ben Lahely
Yannick Blondeau
YB
Jileni
Sarra Baltagi
SB
El Khil
Houssein K
HK
Soubrier
Florent
F
Ben Ammar Elgaaied
Amel
A
D000328:Adult; D000368:Aged; D015179:Colorectal Neoplasms / Q000235:genetics*; D045647:DNA Glycosylases / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D014416:Tunisia
D045647:DNA Glycosylases; C061738:mutY adenine glycosylase