title: Disruption of the MMAC1/PTEN gene by deletion or mutation is a frequent event in malignant melanoma.
abstract: The MMAC1/PTEN gene, located at 10q23.3, is a candidate tumor suppressor commonly mutated in glioma. We have studied the pattern of deletion, mutation, and expression of MMAC1/PTEN in 35 unrelated melanoma cell lines. Nine (26%) of the cell lines showed partial or complete homozygous deletion of the MMAC1/PTEN gene, and another six (17%) harbored a mutation in combination with loss of the second allele. Mutations could also be demonstrated in uncultured tumor specimens from which the cell lines had been established, and cell lines derived from two different metastases from one individual carried the same missense mutation. Collectively, these findings suggest that disruption of MMAC1/PTEN by allelic loss or mutation may contribute to the pathogenesis or neoplastic evolution in a large proportion of malignant melanomas.
authors.affiliation: Department of Tumor Cell Biology, Danish Cancer Society, Copenhagen, Denmark.
authors.forename: P
authors.initials: P
authors.lastname: Guldberg
authors.forename: P
authors.initials: P
authors.lastname: thor Straten
authors.forename: A
authors.initials: A
authors.lastname: Birck
authors.forename: V
authors.initials: V
authors.lastname: Ahrenkiel
authors.forename: A F
authors.initials: AF
authors.lastname: Kirkin
authors.forename: J
authors.initials: J
authors.lastname: Zeuthen
mesh_terms: D001483:Base Sequence; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases; D016133:Polymerase Chain Reaction; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*; D014407:Tumor Cells, Cultured; D025521:Tumor Suppressor Proteins
chemical_list: D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D017027:Protein Tyrosine Phosphatases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human