Article
Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations.
Journal of medical genetics - 1 Feb 2010
Brugières Laurence, Pierron Gaëlle, Chompret Agnès, Paillerets Brigitte Bressac-de, Di Rocco Federico, Varlet Pascale, Pierre-Kahn Alain, Caron Olivier, Grill Jacques, Delattre Olivier
Abstract excerpt
METHODS AND 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...
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