title: [Juvenile polyposis syndrome].
abstract: Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder characterized by the occurrence of juvenile polyps and predisposition to cancer of the gastrointestinal tract (GIT). Characteristic feature of juvenile polyps are irregular cystic glands filled with mucus not observed in other colorectal cancer syndromes. Germline mutations in the SMAD4 and BMPR1A genes are found in 40% of the JP individuals. Hereditary hemorrhagic telangiectasia (HHT) and higher frequency of gastric polyposis are associated mostly with SMAD4 mutations.
authors.affiliation: Ústav biologie a lékařské genetiky, Fakultní nemocnice v Motole, Praha. peter.vasovcak@fnmotol.cz
authors.forename: P
authors.initials: P
authors.lastname: Vasovčák
authors.forename: L
authors.initials: L
authors.lastname: Foretová
authors.forename: A
authors.initials: A
authors.lastname: Puchmajerová
authors.forename: A
authors.initials: A
authors.lastname: Křepelová
mesh_terms: D052005:Bone Morphogenetic Protein Receptors, Type I / Q000235:genetics; D006801:Humans; D044483:Intestinal Polyposis / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary; D051901:Smad4 Protein / Q000235:genetics
chemical_list: D051901:Smad4 Protein; C498211:BMPR1A protein, human; D052005:Bone Morphogenetic Protein Receptors, Type I