Do we know all there is to know about Familial Adenomatous Polyposis?
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.
Bougatef
Karim
K
Laboratoire de génétique, immunologie et pathologies humaines, Faculté des sciences de Tunis, Campus universitaire, Tunis, Tunisie. karim.bougaterf@fst.rnu.tn
Krichene
Ahmed
A
Marrakchi
Raja
R
Kourda
Nadia
N
Blondeau Lahely
Yannick
Y
Moussa
Amel
A
Troudi
Wafa
W
Jileni
Sarra Ben
SB
Najjar
Tawfik
T
Soubrier
Florent
F
Ammar Elgaaied
Amel Ben
AB
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
D003062:Codon; D018388:Codon, Terminator; D000225:Adenine