title: [Juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome in a patient a with SMAD4 mutation].
abstract: Germ line mutations in SMAD4 can cause both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome. In this case we present a 37-year-old man with a frameshift mutation in SMAD4. The patient had multiple polyps in the gastrointestinal tract and was diagnosed with colon cancer at the age of 21 and gastro-oesophageal junction cancer at the age of 37. Furthermore the patient had telangiectasias and recurrent epistaxis.
authors.affiliation: Klinisk Genetisk Afdeling, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense C. anne.marie.jelsig@rsyd.dk.
authors.forename: Anne Marie
authors.initials: AM
authors.lastname: Jelsig
authors.forename: Pernille Mathiesen
authors.initials: PM
authors.lastname: Tørring
authors.forename: Friedrik
authors.initials: F
authors.lastname: Wikman
authors.forename: Michael Bau
authors.initials: MB
authors.lastname: Mortensen
authors.forename: Niels
authors.initials: N
authors.lastname: Qvist
authors.forename: Lilian Bomme
authors.initials: LB
authors.lastname: Ousager
mesh_terms: D000328:Adult; D018279:Carcinoma, Signet Ring Cell / Q000209:etiology / Q000235:genetics / Q000601:surgery; D004844:Epistaxis / Q000235:genetics; D016368:Frameshift Mutation; D005770:Gastrointestinal Neoplasms / Q000209:etiology / Q000235:genetics / Q000601:surgery; D018095:Germ-Line Mutation; D006801:Humans; D044483:Intestinal Polyposis / Q000150:complications / Q000151:congenital / Q000235:genetics*; D008297:Male; D009386:Neoplastic Syndromes, Hereditary / Q000150:complications / Q000235:genetics*; D051901:Smad4 Protein / Q000235:genetics*; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000235:genetics*
chemical_list: D051901:Smad4 Protein