PMID- 9041183
OWN - NLM
STAT- MEDLINE
DCOM- 19970328
LR  - 20201113
IS  - 0008-5472 (Print)
IS  - 0008-5472 (Linking)
VI  - 57
IP  - 5
DP  - 1997 Mar 1
TI  - Sporadic medulloblastomas contain PTCH mutations.
PG  - 842-5
AB  - Nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin's syndrome, is an 
      autosomal dominant disorder that predisposes to developmental defects and various 
      forms of cancer. PTCH was recently proposed as a candidate gene for NBCCS due to 
      its frequent mutation in basal cell carcinomas, the cancer most often associated 
      with this syndrome. Another NBCCS-associated cancer is medulloblastoma, a common 
      central nervous system tumor in children. Most medulloblastomas, however, occur 
      without indication of an inherited predisposition. We have examined 24 sporadic 
      medulloblastomas for loss of heterozygosity (LOH) at loci flanking as well as 
      within PTCH. In cases with LOH, single-strand conformational polymorphism and 
      sequencing analysis were performed to determine the status of the remaining PTCH 
      allele. Microsatellite analysis indicated LOH of PTCH in 5 of 24 tumors, and in 
      three of these cases a mutation of the remaining allele was identified. Two of 
      the mutations were duplication insertions, and the third consisted of a single 
      base deletion. It is interesting that all three mutations occur in exon 17 of the 
      PTCH gene. These data suggest that inactivation of PTCH function is involved in 
      the development of at least a subset of sporadic medulloblastomas.
FAU - Raffel, C
AU  - Raffel C
AD  - Department of Neurosurgery, Mayo Clinic and Foundation, Rochester, Minnesota 
      55905, USA. raffel.corey@mayo.edu
FAU - Jenkins, R B
AU  - Jenkins RB
FAU - Frederick, L
AU  - Frederick L
FAU - Hebrink, D
AU  - Hebrink D
FAU - Alderete, B
AU  - Alderete B
FAU - Fults, D W
AU  - Fults DW
FAU - James, C D
AU  - James CD
LA  - eng
GR  - CA55728/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Cancer Res
JT  - Cancer research
JID - 2984705R
RN  - 0 (Membrane Proteins)
RN  - 0 (PTCH1 protein, human)
RN  - 0 (Patched Receptors)
RN  - 0 (Patched-1 Receptor)
RN  - 0 (Receptors, Cell Surface)
SB  - IM
MH  - Chromosomes, Human, Pair 9
MH  - Heterozygote
MH  - Humans
MH  - Medulloblastoma/*genetics
MH  - Membrane Proteins/*genetics
MH  - Microsatellite Repeats
MH  - Patched Receptors
MH  - Patched-1 Receptor
MH  - Polymorphism, Restriction Fragment Length
MH  - Polymorphism, Single-Stranded Conformational
MH  - Receptors, Cell Surface
MH  - Sequence Deletion
EDAT- 1997/03/01 00:00
MHDA- 1997/03/01 00:01
CRDT- 1997/03/01 00:00
PHST- 1997/03/01 00:00 [pubmed]
PHST- 1997/03/01 00:01 [medline]
PHST- 1997/03/01 00:00 [entrez]
PST - ppublish
SO  - Cancer Res. 1997 Mar 1;57(5):842-5.