title: Alterations of p16/MTS1 gene in oral squamous cell carcinomas from Taiwanese.
abstract: To determine the alterations of the p16/MTS1 gene in oral squamous cell carcinoma (OSCC), we examined in Taiwanese patients the mutation, deletion and methylation of p16/MTS1 in primary OSCCs associated mostly with betel quid (BQ)/tobacco use. Among 110 tumors undergoing mutational analyses, seven (6%) showed mutations in exon 2 or the intron 1/exon 2 splice site. All but one mutation disrupted the encoded proteins. Base transitions represented the vast majority (6/7) of the mutations identified in BQ/tobacco consuming subjects. It was noted that 15/56 (27%) tumors examined by restriction fragment methylation analysis revealed a significant level of methylation in different loci of exon 1 as compared with the respective non-cancerous tissue. Mutation of p16/MTS1 was exclusively identified in carcinomas of buccal mucosa, whereas methylation of the p16/MTS1 promoter region occurred preferentially in carcinomas of the tongue (54%) rather than at other sites (22%). Homozygous deletion was not found in 56 paired samples examined, nor was hemizygous deletion indicated in 12 informative cases. The results indicated aberrant methylation and mutation as the molecular abnormality of p16/MTS1 in the OSCC from Taiwanese.
authors.affiliation: Institute of Oral Biology and Faculty of Dentistry, National Yang-Ming University, Taiwan, ROC.
authors.forename: S C
authors.initials: SC
authors.lastname: Lin
authors.forename: K W
authors.initials: KW
authors.lastname: Chang
authors.forename: C S
authors.initials: CS
authors.lastname: Chang
authors.forename: T Y
authors.initials: TY
authors.lastname: Liu
authors.forename: Y S
authors.initials: YS
authors.lastname: Tzeng
authors.forename: F S
authors.initials: FS
authors.lastname: Yang
authors.forename: Y K
authors.initials: YK
authors.lastname: Wong
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001114:Areca; D020137:Base Pair Mismatch; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D016009:Chi-Square Distribution; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D015972:Gene Expression Regulation, Neoplastic; D019942:Genes, p16 / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008745:Methylation; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010946:Plants, Medicinal; D012150:Polymorphism, Restriction Fragment Length; D011401:Promoter Regions, Genetic / Q000235:genetics; D000071999:S100 Calcium-Binding Protein A4; D009418:S100 Proteins / Q000235:genetics*; D013624:Taiwan; D014062:Tongue Neoplasms / Q000235:genetics
chemical_list: D000071999:S100 Calcium-Binding Protein A4; D009418:S100 Proteins; C077591:S100A4 protein, human