MAD-related Genes on 18q21.1, Smad2 and Smad4, Are Altered Infrequently in Esophageal Squamous Cell Carcinoma |
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| Authors: | Chihaya Maesawa Gen Tamura Satoshi Nishizuka Takeshi Iwaya Satoshi Ogasawara Kaoru Ishida Ken Sakata Nobuhiro Sato Kenichiro Ikeda Yusuke Kimura Kazuyoshi Saito Ryoichi Satodate |
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| Affiliation: | Departments of Pathology, Iwate Medical University School of Medicine, 19-1 Uchimaru, Morioka 020;Departments of Surgery, Iwate Medical University School of Medicine, 19-1 Uchimaru, Morioka 020 |
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| Abstract: | The MAD (mothers against decapentaplegic)-related genes, Smad2 (former name MA DR2 or JV18-1 ) and Smad4 (former name DPC4 ), have been identified on chromosome 18q21.1, We analyzed 30 primary esophageal squamous cell carcinomas (ESCC) and 7 cell lines derived from ESCC for intragenic mutations and loss of heterozygosity (LOH) of the Smad2 and Smad4 genes. LOH was detected in 5 of 14 (35%) informative cases. However, no mutations in either gene were detected in either the primary carcinomas or the cell lines, and only a G-to-A base transition within the 3'-untranslated region of the Smad4 gene was observed in a carcinoma. There were no homozygous deletions in either of the genes in the cell lines. MAD -related genes on chromosome 18q21.1 are altered infrequently in ESCC. |
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| Keywords: | Smad2 Smad4 Mutation Esophageal carcinoma TGFβ |
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