title: Identification of somatic mutations of the RNF6 gene in human esophageal squamous cell carcinoma.
abstract: We mapped a tumor suppressor gene locus to an 800-kb interval on human chromosome 13q12.11 for esophageal squamous cell carcinoma (ESCC). Two genes, ML-1 and RNF6, are located within this 800-kb interval. We analyzed both genes for the presence of mutations in 24 ESCC primary tumors and 16 tumor cell lines by directly sequencing the PCR products that were amplified from each exon. No mutation was detected in ML-1. In contrast, three somatic mutations in the RNF6 gene were detected in the ESCC primary tumors, and one mutation was also found in a tumor cell line. Identification of multiple somatic mutations in RNF6 suggests that RNF6 is a potential tumor suppressor gene involved in the pathogenesis of ESCC.
authors.affiliation: Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
authors.forename: H Shuen
authors.initials: HS
authors.lastname: Lo
authors.forename: Nan
authors.initials: N
authors.lastname: Hu
authors.forename: Sheryl
authors.initials: S
authors.lastname: Gere
authors.forename: Ning
authors.initials: N
authors.lastname: Lu
authors.forename: Hua
authors.initials: H
authors.lastname: Su
authors.forename: Alisa M
authors.initials: AM
authors.lastname: Goldstein
authors.forename: Philip R
authors.initials: PR
authors.lastname: Taylor
authors.forename: Maxwell P
authors.initials: MP
authors.lastname: Lee
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D016207:Cytokines / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D004938:Esophageal Neoplasms / Q000235:genetics*; D016147:Genes, Tumor Suppressor; D006801:Humans; D020381:Interleukin-17; D009154:Mutation; D014407:Tumor Cells, Cultured
chemical_list: D016207:Cytokines; D004268:DNA-Binding Proteins; C440021:IL17F protein, human; D020381:Interleukin-17; C119753:RNF6 protein, human