title: Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations.
abstract: RESULTS
  Germline SUFU mutations were identified in two families with several children under 3 years of age diagnosed with medulloblastoma. All medulloblastomas in which the histology was reviewed were of the desmoplastic subtype, including three with the rare extensive nodularity subtype. In both families, the mutation detected in the SUFU gene was a frameshift mutation. Among the 25 mutation carriers identified in the two families, seven developed medulloblastomas.
  
  
  CONCLUSIONS
  This report highlights three features of SUFU related tumours. These are mainly medulloblastomas with extensive nodularity or typical desmoplastic/nodular medulloblastomas. These tumours mostly, if not exclusively, appear during the first 3 years of life. The penetrance of the mutation is incomplete.
authors.affiliation: Department of Paediatric Oncology, Institut Gustave Roussy, 94805 Villejuif, France. brugiere@igr.fr
authors.forename: Laurence
authors.initials: L
authors.lastname: Brugières
authors.forename: Gaëlle
authors.initials: G
authors.lastname: Pierron
authors.forename: Agnès
authors.initials: A
authors.lastname: Chompret
authors.forename: Brigitte Bressac-de
authors.initials: BB
authors.lastname: Paillerets
authors.forename: Federico
authors.initials: F
authors.lastname: Di Rocco
authors.forename: Pascale
authors.initials: P
authors.lastname: Varlet
authors.forename: Alain
authors.initials: A
authors.lastname: Pierre-Kahn
authors.forename: Olivier
authors.initials: O
authors.lastname: Caron
authors.forename: Jacques
authors.initials: J
authors.lastname: Grill
authors.forename: Olivier
authors.initials: O
authors.lastname: Delattre
mesh_terms: D000328:Adult; D002528:Cerebellar Neoplasms / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D008297:Male; D008527:Medulloblastoma / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D012097:Repressor Proteins; C490764:SUFU protein, human