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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
1998-11-12
pubmed:abstractText
We studied PTEN/MMAC1, a newly discovered candidate tumor suppressor gene at 10q23.3, for mutations in lung cancer. One hundred and thirty-six lung cancer cell line DNAs (66 small cell lung cancers, SCLC, 61 non-small cell lung cancers, NSCLC, four mesotheliomas, five extrapulmonary small cell cancers) were analysed for PTEN/MMAC1 homozygous deletions and five (8%) SCLC lines showed homozygous deletions interrupting the PTEN/MMAC1 gene. Using single stranded conformation polymorphism (SSCP) analysis, we screened the PTEN/MMAC1 open reading frame of 53 lung cancer cell line cDNAs for point mutations and found that 3/35 SCLCs and 3/18 NSCLCs contained homozygous amino acid sequence altering mutations. Northern blot analysis revealed that expression of the PTEN/MMAC1 gene was considerably lower in all the tumor cell lines with point mutations while no expression was detected for cell lines with PTEN/MMAC1 homozygous deletions. Mutation analysis of 22 uncultured, microdissected, primary SCLC tumors and metastases showed two silent mutations, and two apparent homozygous deletions. We also discovered a processed pseudogene (PTEN2) which has 98.5% nt identity to PTEN/MMAC1, that needs to be accounted for in cDNA mutation analysis. Our findings suggest that genetic abnormalities of the PTEN/MMAC1 gene are only involved in a relatively small subset of lung cancers.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0950-9232
pubmed:author
pubmed:issnType
Print
pubmed:day
24
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1557-65
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed-meshheading:9794233-Carcinoma, Small Cell, pubmed-meshheading:9794233-Chromosome Mapping, pubmed-meshheading:9794233-DNA Mutational Analysis, pubmed-meshheading:9794233-Gene Deletion, pubmed-meshheading:9794233-Gene Expression Regulation, Neoplastic, pubmed-meshheading:9794233-Genes, Tumor Suppressor, pubmed-meshheading:9794233-Humans, pubmed-meshheading:9794233-Loss of Heterozygosity, pubmed-meshheading:9794233-Lung Neoplasms, pubmed-meshheading:9794233-Mutation, pubmed-meshheading:9794233-PTEN Phosphohydrolase, pubmed-meshheading:9794233-Phosphoric Monoester Hydrolases, pubmed-meshheading:9794233-Point Mutation, pubmed-meshheading:9794233-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:9794233-Protein Tyrosine Phosphatases, pubmed-meshheading:9794233-Pseudogenes, pubmed-meshheading:9794233-Tumor Cells, Cultured, pubmed-meshheading:9794233-Tumor Suppressor Proteins
pubmed:year
1998
pubmed:articleTitle
Mutation analysis of the PTEN/MMAC1 gene in lung cancer.
pubmed:affiliation
Hamon Center for Therapeutic Oncology Research, University of Texas, Southwestern Medical Center, Dallas 75235, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't