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. 1997 Apr;88(4):340-3.
doi: 10.1111/j.1349-7006.1997.tb00386.x.

MAD-related genes on 18q21.1, Smad2 and Smad4, are altered infrequently in esophageal squamous cell carcinoma

C Maesawa  1 , G Tamura, S Nishizuka, T Iwaya, S Ogasawara, K Ishida, K Sakata, N Sato, K Ikeda, Y Kimura, K Saito, R Satodate
Affiliations

MAD-related genes on 18q21.1, Smad2 and Smad4, are altered infrequently in esophageal squamous cell carcinoma

C Maesawa et al. Jpn J Cancer Res. 1997 Apr.

Abstract

The MAD (mothers against decapentaplegic)-related genes, Smad2 (former name MADR2 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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