title: Somatic mutation of MutYH in Tunisian patients with sporadic colorectal cancer.
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.
authors.affiliation: Laboratoire de Génétique, Immunologie et Pathologies Humaines, Faculté des Sciences de Tunis, Campus Universitaire 2092, Tunis, Tunisia. karim.bougatef@fst.rnu.tn
authors.forename: Karim
authors.initials: K
authors.lastname: Bougatef
authors.forename: Raja
authors.initials: R
authors.lastname: Marrakchi
authors.forename: Nadia
authors.initials: N
authors.lastname: Kourda
authors.forename: Yannick Blondeau
authors.initials: YB
authors.lastname: Ben Lahely
authors.forename: Sarra Baltagi
authors.initials: SB
authors.lastname: Jileni
authors.forename: Houssein K
authors.initials: HK
authors.lastname: El Khil
authors.forename: Florent
authors.initials: F
authors.lastname: Soubrier
authors.forename: Amel
authors.initials: A
authors.lastname: Ben Ammar Elgaaied
mesh_terms: 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
chemical_list: D045647:DNA Glycosylases; C061738:mutY adenine glycosylase