title: A review of juvenile polyposis syndrome.
abstract: Juvenile Polyposis Syndrome is an uncommon hamartomatous disorder with significant gastrointestinal malignant potential. Mutations in SMAD4 and BMPR1A, implicated in the Transforming Growth Factor beta pathway, have recently been characterized, and hold significance in the management of patients and at risk family members. This article reviews our knowledge to date of the genetics and clinicopathological features of the Juvenile Polyposis Syndrome, and discusses the current expert recommendations for genetic testing, disease screening and management.
authors.affiliation: Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Victoria, Australia. Elizabeth.Chow@mh.org.au
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Chow
authors.forename: Finlay
authors.initials: F
authors.lastname: Macrae
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000628:therapy*; D052005:Bone Morphogenetic Protein Receptors, Type I / Q000235:genetics; D002648:Child; D005770:Gastrointestinal Neoplasms / Q000209:etiology; D006801:Humans; D009154:Mutation; D051059:PTEN Phosphohydrolase / Q000235:genetics; D051901:Smad4 Protein / Q000235:genetics
chemical_list: C497796:SMAD4 protein, human; D051901:Smad4 Protein; C498211:BMPR1A protein, human; D052005:Bone Morphogenetic Protein Receptors, Type I; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human