Evidence for a Familial Esophageal Cancer Susceptibility Gene on Chromosome 13
- Nan Hu,
- Alisa M. Goldstein,
- Paul S. Albert,
- Carol Giffen,
- Ze-Zhong Tang,
- Ti Ding,
- Philip R. Taylor1 and
- Michael R. Emmert-Buck2
- Center for Cancer Research [N. H., P. R. T., M. R. E-B.], Division of Cancer Epidemiology and Genetics [A. M. G.], and Division of Cancer Treatment and Diagnosis [P. S. A.], National Cancer Institute, Bethesda, Maryland 20892; Information Management Services, Inc., Silver Spring, Maryland 20904 [C. G.]; and Shanxi Cancer Hospital, Taiyuan, Shanxi 030013, People’s Republic of China [Z-Z. T., T. D.]
Abstract
Previous segregation analyses of pedigrees from areas of China where esophageal squamous cell carcinoma (ESCC) rates are extraordinarily high suggested a Mendelian mode of transmission. We initiated a search for a major ESCC gene by conducting a genome-wide scan in ESCC tumors. Chromosome 13 showed loss of heterozygosity (LOH) in 95% of microsatellite markers, the highest frequency of LOH on any chromosome. In the current study, we established a high-resolution deletion map using 107 markers on 13q and compared LOH frequency by family history of upper gastrointestinal cancer. Overall allelic loss was significantly higher in those with a positive (versus negative) family history, suggesting the presence of an inherited tumor suppressor gene on 13q in ESCC.
Footnotes
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↵1 To whom requests for reprints may be addressed, at Cancer Prevention Studies Branch, National Cancer Institute, 6116 Executive Boulevard, Room 705, Bethesda, MD 20892-8314. Phone: (301) 594-2932; Fax: (301) 435-8645; E-mail: ptaylor{at}mail.nih.gov
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↵2 To whom requests for reprints may be addressed, at Pathogenetics Unit, Laboratory of Pathology, National Cancer Institute, Building 10, Room 2A33, 9000 Rockville Pike, Bethesda, MD 20892. Phone: (301) 496-2912; Fax: (301) 594-7582; E-mail: mbuck{at}helix.nih.gov
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↵3 The abbreviations used are: ESSC, esophageal squamous cell carcinoma; LOH, loss of heterozygosity.
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↵4 http://cedar.genetics.soton.ac.uk/public_html/read.html.
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- Accepted June 16, 1903.
- Received March 7, 1903.
- Revision received June 2, 1903.
