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PMID: 9765621 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Somatic mutations of the PTEN/MMAC1 gene in fifteen Japanese endometrial cancers: evidence for inactivation of both alleles.

Japanese journal of cancer research : Gann ·Vol. 89 ·No. 8 ·1998-08-00 ·Pages 842-8

Kurose K, Bando K, Fukino K, Sugisaki Y, Araki T, Emi M

Abstract

Loss of heterozygosity (LOH) of chromosome 10q is observed in approximately 40% of endometrial cancers. Mutations in PTEN/MMAC1, a gene recently isolated from the 10q23 region, are responsible for two dominantly inherited neoplastic syndromes, Cowden disease and Bannayan-Zonana syndrome. Somatic mutations of this gene have also been detected in sporadic cancers of the brain, prostate and breast. To investigate the potential role of this putative tumor suppressor gene in endometrial carcinogenesis as well, we examined 46 primary endometrial cancers for LOH at the 10q23 region, and for mutations in the entire coding region and exon-intron boundaries of the PTEN/MMAC1 gene. LOH was identified in half of the 38 informative cases, and subtle somatic mutations were detected in 15 tumors (33%). Our results suggest that of the genes studied so far in endometrial carcinomas, PTEN/MMAC1 is the most commonly mutated one, and that inactivation of both copies by allelic loss and/or mutation, a pattern that defines genes as "tumor suppressors," contributes to tumorigenesis in endometrial cancers.

MeSH Terms
Alleles Chromosomes, Human, Pair 10 Endometrial Neoplasms/genetics Female Gene Expression Regulation, Neoplastic Genes, Tumor Suppressor Humans Loss of Heterozygosity Mutation Neoplasm Proteins/genetics PTEN Phosphohydrolase Phosphoric Monoester Hydrolases Protein Tyrosine Phosphatases/genetics Tumor Suppressor Proteins
Chemicals
Neoplasm Proteins Tumor Suppressor Proteins Phosphoric Monoester Hydrolases Protein Tyrosine Phosphatases PTEN Phosphohydrolase PTEN protein, human
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Kurose K
Department of Molecular Biology, Nippon Medical School, Kawasaki.
Bando K
Fukino K
Sugisaki Y
Araki T
Emi M
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Article Info
Journal
Japanese journal of cancer research : Gann
Abbr.
Jpn J Cancer Res
ISSN
0910-5050
DOI
10.1111/j.1349-7006.1998.tb00638.x
Published
1998-08-00
Pages
842-8
Language
English
Region
Japan
NLM ID
8509412
PMCID
PMC5921910
Subset
IM
External Links
PubMed source DOI: 10.1111/j.1349-7006.1998.tb00638.x PMC Full Text
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