PMID- 19833601
OWN - NLM
STAT- MEDLINE
DCOM- 20100506
LR  - 20130520
IS  - 1468-6244 (Electronic)
IS  - 0022-2593 (Linking)
VI  - 47
IP  - 2
DP  - 2010 Feb
TI  - Incomplete penetrance of the predisposition to medulloblastoma associated with 
      germ-line SUFU mutations.
PG  - 142-4
LID - 10.1136/jmg.2009.067751 [doi]
AB  - 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: 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.
FAU - Brugieres, Laurence
AU  - Brugieres L
AD  - Department of Paediatric Oncology, Institut Gustave Roussy, 94805 Villejuif, 
      France. brugiere@igr.fr
FAU - Pierron, Gaelle
AU  - Pierron G
FAU - Chompret, Agnes
AU  - Chompret A
FAU - Paillerets, Brigitte Bressac-de
AU  - Paillerets BB
FAU - Di Rocco, Federico
AU  - Di Rocco F
FAU - Varlet, Pascale
AU  - Varlet P
FAU - Pierre-Kahn, Alain
AU  - Pierre-Kahn A
FAU - Caron, Olivier
AU  - Caron O
FAU - Grill, Jacques
AU  - Grill J
FAU - Delattre, Olivier
AU  - Delattre O
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20091014
PL  - England
TA  - J Med Genet
JT  - Journal of medical genetics
JID - 2985087R
RN  - 0 (Repressor Proteins)
RN  - 0 (SUFU protein, human)
SB  - IM
MH  - Adult
MH  - Cerebellar Neoplasms/*genetics
MH  - Child, Preschool
MH  - DNA Mutational Analysis
MH  - Family
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Infant
MH  - Male
MH  - Medulloblastoma/*genetics
MH  - Pedigree
MH  - *Penetrance
MH  - Repressor Proteins/*genetics
EDAT- 2009/10/17 06:00
MHDA- 2010/05/07 06:00
CRDT- 2009/10/17 06:00
PHST- 2009/10/17 06:00 [entrez]
PHST- 2009/10/17 06:00 [pubmed]
PHST- 2010/05/07 06:00 [medline]
AID - jmg.2009.067751 [pii]
AID - 10.1136/jmg.2009.067751 [doi]
PST - ppublish
SO  - J Med Genet. 2010 Feb;47(2):142-4. doi: 10.1136/jmg.2009.067751. Epub 2009 Oct 
      14.