title: Do we know all there is to know about Familial Adenomatous Polyposis?
abstract: Familial Adenomatous Polyposis (FAP) and Attenuated FAP (AFAP) are caused by a germline mutation in the Adenomatous polyposis coli (APC) gene. Recently, a new pathway characterized by a biallelic mutation in the MYH gene, with a recessive model of inheritance was discovered for this inherited syndrome. This report describes a Tunisian patient with an attenuated FAP phenotype, presenting seven colon polyps and an adenocarcinoma but no detectable germline mutations in the FAP target genes. A well known somatic mutation was found in the APC mutation cluster region (MCR). This case shows that further studies are needed to fully understand all the pathways of the FAP syndrome.
authors.affiliation: Laboratoire de génétique, immunologie et pathologies humaines, Faculté des sciences de Tunis, Campus universitaire, Tunis, Tunisie. karim.bougaterf@fst.rnu.tn
authors.forename: Karim
authors.initials: K
authors.lastname: Bougatef
authors.forename: Ahmed
authors.initials: A
authors.lastname: Krichene
authors.forename: Raja
authors.initials: R
authors.lastname: Marrakchi
authors.forename: Nadia
authors.initials: N
authors.lastname: Kourda
authors.forename: Yannick
authors.initials: Y
authors.lastname: Blondeau Lahely
authors.forename: Amel
authors.initials: A
authors.lastname: Moussa
authors.forename: Wafa
authors.initials: W
authors.lastname: Troudi
authors.forename: Sarra Ben
authors.initials: SB
authors.lastname: Jileni
authors.forename: Tawfik
authors.initials: T
authors.lastname: Najjar
authors.forename: Florent
authors.initials: F
authors.lastname: Soubrier
authors.forename: Amel Ben
authors.initials: AB
authors.lastname: Ammar Elgaaied
mesh_terms: D000225:Adenine; D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D003062:Codon / Q000235:genetics; D018388:Codon, Terminator / Q000235:genetics; D017491:Genes, APC; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D005810:Multigene Family / Q000235:genetics; D009154:Mutation / Q000235:genetics; D019683:Penetrance; D010641:Phenotype; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D003062:Codon; D018388:Codon, Terminator; D000225:Adenine