Frequent somatic mutation of the MTS1/CDK4I (multiple tumor suppressor/cyclin-dependent kinase 4 inhibitor) gene in esophageal squamous cell carcinoma.
We previously reported frequent loss of heterozygosity on chromosome 9p in esophageal carcinomas and suggested that a tumor suppressor gene located on this chromosomal arm might be involved in development of these cancers. Since recently published studies have shown that a gene mapped on chromosome 9p21, MTS1/CDK4I (multiple tumor suppressor 1/cyclin-dependent kinase 4 inhibitor), is frequently mutated in various types of tumors, we chose to examine esophageal squamous cell carcinomas for mutations in this candidate gene. DNA sequence analyses revealed somatic mutations of MTS1/CDK4I in 14 of 27 tumors examined; 8 were frame-shift mutations and 6 were missense mutations. These results suggested that the MTS1/CDK4I gene is a tumor suppressor the inactivation of which plays an important role during carcinogenesis of the squamous cell type of esophageal carcinoma.
Department of Biochemistry, Cancer Institute, Tokyo, Japan.
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T
Mori
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Miura
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Aoki
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Nishihira
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Mori
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Nakamura
D001483:Base Sequence; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9; D004252:DNA Mutational Analysis; D004938:Esophageal Neoplasms / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics*; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data