Identification of PTEN/MMAC1 alterations in uncultured melanomas and melanoma cell lines View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1998-07-14

AUTHORS

Hensin Tsao, Xue Zhang, Eric Benoit, Frank G Haluska

ABSTRACT

A novel tumor suppressor gene, PTEN/MMAC1, has been recently shown to be mutated in gliomas, breast, prostate, kidney cancers and melanomas. Loss-of-heterozygosity studies in melanoma have suggested the presence of at least one chromosome 10q locus lost early in tumor progression. In this study, we screened 45 melanoma cell lines and 17 paired uncultured metastatic melanoma and peripheral blood specimens for PTEN/MMAC1 alterations using PCR-SSCP and direct sequencing. We found nine melanoma cell lines with homozygous deletions (five with intragenic loss) and four cell lines with mutations (one nonsense and one frameshift; two intronic); from among our uncultured melanoma specimens, we found one tumor with a somatic 17 bp duplication in exon 7 leading to a premature stop codon and one tumor with a possible homozygous deletion. Furthermore, we have identified a novel intragenic polymorphism within intron 4 of PTEN/MMAC1. Taken together, these data suggest that PTEN/MMAC1 may be a chromosome 10q tumor suppressor important in melanoma tumor formation or progression. More... »

PAGES

3397-3402

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.onc.1201881

DOI

http://dx.doi.org/10.1038/sj.onc.1201881

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1015964544

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9692547


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