title: Biallelic inactivation of the RIZ1 gene in human gastric cancer.
abstract: The distal short arm of chromosome 1 is commonly deleted in a variety of human neoplasms including gastrointestinal cancer. Genetic alterations of the retinoblastoma protein-interacting zing-finger gene (RIZ)1 including loss of heterozygosity (LOH) at 1p36, frameshift mutations, and promoter hypermethylation were reported previously in several cancers. In this study, we evaluated RIZ1 in 30 primary gastric cancers and found frameshift mutations in two cases (6.7%). Moreover, using real-time quantitative methylation-specific PCR, methylation of the RIZ1 promoter was detected in 11 (37%) cases. In all 11 cases with methylation, inactivation of the second allele occurred through frameshift mutation, LOH or promoter methylation. Our results suggest that RIZ1 is a specific target of inactivation in human gastric cancer.
authors.affiliation: Head and Neck Cancer Research Division, Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, MD 21205-2196, USA.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Tokumaru
authors.forename: Shuji
authors.initials: S
authors.lastname: Nomoto
authors.forename: Carmen
authors.initials: C
authors.lastname: Jerónimo
authors.forename: Rui
authors.initials: R
authors.lastname: Henrique
authors.forename: Susan
authors.initials: S
authors.lastname: Harden
authors.forename: Barry
authors.initials: B
authors.lastname: Trink
authors.forename: David
authors.initials: D
authors.lastname: Sidransky
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D002878:Chromosomes, Human, Pair 1; D019175:DNA Methylation; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D016368:Frameshift Mutation; D015972:Gene Expression Regulation, Neoplastic; D020868:Gene Silencing; D016147:Genes, Tumor Suppressor; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D019656:Loss of Heterozygosity; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D011401:Promoter Regions, Genetic; D016160:Retinoblastoma Protein / Q000235:genetics / Q000378:metabolism; D013274:Stomach Neoplasms / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D016160:Retinoblastoma Protein; D014157:Transcription Factors; D011495:Histone-Lysine N-Methyltransferase; C093563:PRDM2 protein, human