Oncogene
SEARCH     advanced search my account e-alerts subscribe register
Journal home
Advance online publication
Current issue
Archive
Press releases
For authors
For referees
Contact editorial office
About the journal
For librarians
Subscribe
Advertising
naturereprints
Contact NPG
Customer services
Site features
NPG Subject areas
Access material from all our publications in your subject area:
Biotechnology Biotechnology
Cancer Cancer
Chemistry Chemistry
Dentistry Dentistry
Development Development
Drug Discovery Drug Discovery
Earth Sciences Earth Sciences
Evolution & Ecology Evolution & Ecology
Genetics Genetics
Immunology Immunology
Materials Materials Science
Medical Research Medical Research
Microbiology Microbiology
Molecular Cell Biology Molecular Cell Biology
Neuroscience Neuroscience
Pharmacology Pharmacology
Physics Physics
Browse all publications
 
2 July 1998, Volume 16, Number 26, Pages 3397-3402
Table of contents    Previous  Abstract  Next   Article  PDF
Article
Identification of PTEN/MMAC1 alterations in uncultured melanomas and melanoma cell lines
Hensin Tsao1,2, Xue Zhang2, Eric Benoit2 and Frank G Haluska2,a

1Department of Dermatology, Massachusetts General Hospital and Dana Farber/Partners CancerCare, Fruit Street, Boston, Massachusetts 02114, USA

2Division of Hematology/Oncology, Massachusetts General Hospital and Dana Farber/Partners CancerCare, Fruit Street, Boston, Massachusetts 02114, USA

aAuthor for correspondence

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.

Keywords

cancer; genetics; mutation; PTEN/MMAC1; melanoma

Received 23 September 1997; revised 2 February 1998; accepted 3 February 1998
2 July 1998, Volume 16, Number 26, Pages 3397-3402
Table of contents    Previous  Abstract  Next   Article  PDF