PMID- 8522328
OWN - NLM
STAT- MEDLINE
DCOM- 19960122
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 96
IP  - 6
DP  - 1995 Dec
TI  - Chromosome 17 abnormalities and lack of TP53 mutations in paediatric central 
      nervous system tumours.
PG  - 684-90
AB  - Central nervous system (CNS) tumours are the most common solid tumours in 
      children. Cytogenetic and molecular genetic studies of these neoplasms have 
      previously shown abnormalities of chromosome 17, implicating genes on this 
      autosome in tumorigenesis. To identify mutations in the TP53 tumour suppressor 
      gene (17p13.1), we have sequenced the five highly conserved regions of this gene 
      in 29 mixed paediatric CNS tumors. No mutations were detected by this analysis. 
      In order to identify other candidate disease loci on chromosome 17, we have 
      carried out a detailed deletion mapping analysis using 16 polymorphic DNA markers 
      on 19 of the above tumours and an additional four cases. Abnormalities of 
      chromosome 17 occurred in nine cases (39%), six of which were primitive 
      neuroectodermal tumour (PNET)-medulloblastomas. These findings suggest that it is 
      unlikely that the TP53 gene is directly involved in the development of common 
      paediatric brain tumours. This is in contrast to findings from adult brain and 
      other tumour types. Moreover, the frequency of chromosome 17 aberrations, 
      especially in PNET-medulloblastomas, suggests that other genes on this chromosome 
      contribute to tumourigenesis.
FAU - Phelan, C M
AU  - Phelan CM
AD  - Ludwig Institute for Cancer Research, Karolinska Hospital, Stockholm, Sweden.
FAU - Liu, L
AU  - Liu L
FAU - Ruttledge, M H
AU  - Ruttledge MH
FAU - Muntzning, K
AU  - Muntzning K
FAU - Ridderheim, P A
AU  - Ridderheim PA
FAU - Collins, V P
AU  - Collins VP
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (DNA Primers)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Base Sequence
MH  - Brain Neoplasms/*genetics/pathology
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - *Chromosome Deletion
MH  - *Chromosome Disorders
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 17
MH  - Conserved Sequence
MH  - DNA Primers
MH  - Female
MH  - *Genes, p53
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Restriction Fragment Length
MH  - Spinal Cord Neoplasms/*genetics/pathology
MH  - Transcription, Genetic
EDAT- 1995/12/01 00:00
MHDA- 1995/12/01 00:01
CRDT- 1995/12/01 00:00
PHST- 1995/12/01 00:00 [pubmed]
PHST- 1995/12/01 00:01 [medline]
PHST- 1995/12/01 00:00 [entrez]
AID - 10.1007/BF00210300 [doi]
PST - ppublish
SO  - Hum Genet. 1995 Dec;96(6):684-90. doi: 10.1007/BF00210300.