Concepedia

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

Laurence Brugières, Gaëlle Pierron, Agnès Chompret, Brigitte Bressac–de Paillerets, Federico Di Rocco, Pascale Varlet, Alain Pierre‐Kahn, Olivier Caron, Jacques Grill, Olivier Delattre

Journal of Medical Genetics · 2009 · 59 citations · 7 references

DOI

Abstract

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.

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