Japanese Journal of Cancer Research · 1997 · 32 citations · 18 references
MedicineGeneticsMolecular GeneticsCancer GeneticsMolecular OncologyNeoplasiaCancer CytogeneticsCancer GenomicsEsophageal CancerMalignant NeoplasmsOncogene MutationsSquamous Cell CarcinomaCancer Mutation AnalysisChromosome 18Q LossHomozygous DeletionIntragenic Recombination
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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<i>DPC4</i> , A Candidate Tumor Suppressor Gene at Human Chromosome 18q21.1
Stephan A. Hahn, Mieke Schutte, A.T.M. Shamsul Hoque et al. · Science · 1996 · 2.3K citations
MADR1, a MAD-Related Protein That Functions in BMP2 Signaling Pathways
Pamela A. Hoodless, Theo Haerry, Shirin Abdollah et al. · Cell · 1996 · 706 citations · Full text
DPC4 gene in various tumor types.
Mieke Schutte, Ralph H. Hruban, Lora Hedrick et al. · PubMed · 1996 · 676 citations