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Identification of Somatic Mutations of the RNF6 Gene in Human Esophageal Squamous Cell Carcinoma

Laboratory of Population Genetics [H. S. L., S. G., M. P. L.] and Cancer Prevention Studies Branch [N. H., H. S., P. R. T.], Center for Cancer Research, and Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics [A. M. G.], National Cancer Institute, Bethesda, Maryland 20892, and Cancer Institute and Hospital, Chinese Academy of Medical Sciences, Beijing 100021, People’s Republic of China [N. L.]

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.

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