Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations.

@article{Brugires2010IncompletePO,
  title={Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations.},
  author={Laurence Brugi{\`e}res and Ga{\"e}lle Pierron and Agn{\'e}s Chompret and Brigitte Bressac-de Paillerets and Federico di Rocco and Pascale Varlet and Alain Pierre-Kahn and Olivier Caron and Jacques Grill and Olivier Delattre},
  journal={Journal of medical genetics},
  year={2010},
  volume={47 2},
  pages={142-4}
}
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 carriers identified in the two families, seven developed medulloblastomas. CONCLUSIONS… CONTINUE READING

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