Identification of PTEN/MMAC1 alterations in uncultured melanomas and melanoma cell lines (original) (raw)
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- Published: 14 July 1998
Oncogene volume 16, pages 3397–3402 (1998)Cite this article
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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.
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Authors and Affiliations
- Department of Dermatology, Massachusetts General Hospital and Dana Farber/Partners CancerCare, Fruit Street, Boston, 02114, Massachusetts, USA
Hensin Tsao - Division of Hematology/Oncology, Massachusetts General Hospital and Dana Farber/Partners CancerCare, Fruit Street, Boston, 02114, Massachusetts, USA
Hensin Tsao, Xue Zhang, Eric Benoit & Frank G Haluska
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- Hensin Tsao
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Tsao, H., Zhang, X., Benoit, E. et al. Identification of PTEN/MMAC1 alterations in uncultured melanomas and melanoma cell lines.Oncogene 16, 3397–3402 (1998). https://doi.org/10.1038/sj.onc.1201881
- Received: 23 September 1997
- Revised: 02 February 1998
- Accepted: 03 February 1998
- Published: 14 July 1998
- Issue Date: 02 July 1998
- DOI: https://doi.org/10.1038/sj.onc.1201881