PMID- 10797439
OWN - NLM
STAT- MEDLINE
DCOM- 20000524
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 92
IP  - 2
DP  - 2000 May 15
TI  - Investigation of germline PTEN, p53, p16(INK4A)/p14(ARF), and CDK4 alterations in 
      familial glioma.
PG  - 136-41
AB  - Epidemiological studies suggest that some familial aggregations of glioma may be 
      due to inherited predisposition. Many genes involved in familial cancers are 
      frequently altered in the corresponding sporadic forms. We have investigated 
      several genes known to be altered in sporadic gliomas for their potential 
      contribution to familial glioma. Fifteen glioma patients with a family history of 
      brain tumors were identified through the Mayo Clinic Department of Neurology 
      (nine diffuse astrocytomas, two oligodendrogliomas, two mixed oligoastrocytomas, 
      one pilocytic astrocytoma, and one pineal glioma). Eleven of the propositi had 
      one or more first degree relative with a glioma. Lymphocyte DNA was derived from 
      each of the patients and analyzed by polymerase chain reaction (PCR) and direct 
      sequencing of the PTEN, p53, p16(INK4A)/p14(ARF), and CDK4 genes. In addition, 
      fluorescence in situ hybridization (FISH) was performed on EBV-transformed 
      lymphocytes from each affected individual to detect germline copy number of the 
      p16(INK4A)/p14(ARF) tumor suppressor region. A p53 germline point mutation was 
      identified in one family with some findings of Li-Fraumeni syndrome, and a 
      hemizygous germline deletion of the p16(INK4A)/p14(ARF) tumor suppressor region 
      was demonstrated by FISH in a family with history of both astrocytoma and 
      melanoma. Thus, whereas germ-line mutations of PTEN, p53, p16(INK4A)/p14(ARF), 
      and CDK4 are not common events in familial glioma, outside of familial cancer 
      syndromes, point mutations of p53 and hemizygous deletions and other 
      rearrangements of the p16(INK4A)/p14(ARF) tumor suppressor region may account for 
      a subset of familial glioma cases. Collectively, these data lend genetic support 
      to the heritable nature of some cases of glioma.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Tachibana, I
AU  - Tachibana I
AD  - Department of Laboratory Medicine, Mayo Clinic and Foundation, Rochester, 
      Minnesota, USA.
FAU - Smith, J S
AU  - Smith JS
FAU - Sato, K
AU  - Sato K
FAU - Hosek, S M
AU  - Hosek SM
FAU - Kimmel, D W
AU  - Kimmel DW
FAU - Jenkins, R B
AU  - Jenkins RB
LA  - eng
GR  - CA50905/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Carrier Proteins)
RN  - 0 (Cyclin-Dependent Kinase Inhibitor p16)
RN  - 0 (Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Tumor Suppressor Protein p14ARF)
RN  - 0 (Tumor Suppressor Proteins)
RN  - 9007-49-2 (DNA)
RN  - EC 2.7.11.22 (CDK4 protein, human)
RN  - EC 2.7.11.22 (Cyclin-Dependent Kinase 4)
RN  - EC 2.7.11.22 (Cyclin-Dependent Kinases)
RN  - EC 3.1.3.2 (Phosphoric Monoester Hydrolases)
RN  - EC 3.1.3.67 (PTEN Phosphohydrolase)
RN  - EC 3.1.3.67 (PTEN protein, human)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Brain Neoplasms/*genetics
MH  - Carrier Proteins/genetics
MH  - Cyclin-Dependent Kinase 4
MH  - Cyclin-Dependent Kinase Inhibitor p16
MH  - Cyclin-Dependent Kinases/*genetics
MH  - DNA/chemistry/genetics
MH  - DNA Mutational Analysis
MH  - Family Health
MH  - Female
MH  - Genes, Tumor Suppressor/*genetics
MH  - Genes, p53/genetics
MH  - *Germ-Line Mutation
MH  - Glioma/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - PTEN Phosphohydrolase
MH  - Phosphoric Monoester Hydrolases/genetics
MH  - Proteins/genetics
MH  - *Proto-Oncogene Proteins
MH  - Tumor Suppressor Protein p14ARF
MH  - *Tumor Suppressor Proteins
EDAT- 2000/05/08 09:00
MHDA- 2000/06/08 09:00
CRDT- 2000/05/08 09:00
PHST- 2000/05/08 09:00 [pubmed]
PHST- 2000/06/08 09:00 [medline]
PHST- 2000/05/08 09:00 [entrez]
AID - 10.1002/(SICI)1096-8628(20000515)92:2<136::AID-AJMG11>3.0.CO;2-S [pii]
AID - 10.1002/(sici)1096-8628(20000515)92:2<136::aid-ajmg11>3.0.co;2-s [doi]
PST - ppublish
SO  - Am J Med Genet. 2000 May 15;92(2):136-41. doi: 
      10.1002/(sici)1096-8628(20000515)92:2<136::aid-ajmg11>3.0.co;2-s.