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Mutations in the SMAD4/DPC4 gene in juvenile polyposis.

Author information

Affiliations

  • 1. Department of Surgery, University of Iowa College of Medicine, Iowa City, IA 52242, USA.
      Authors
    • Howe JR 1
    (1 author)

ORCIDs linked to this article

Science, 01 May 1998, 280(5366):1086-1088
https://doi.org/10.1126/science.280.5366.1086 PMID: 9582123 

A comment on this article appears in "Landscaping the cancer terrain." Science. 1998 May 15;280(5366):1036-7.

Abstract 

Familial juvenile polyposis is an autosomal dominant disease characterized by a predisposition to hamartomatous polyps and gastrointestinal cancer. Here it is shown that a subset of juvenile polyposis families carry germ line mutations in the gene SMAD4 (also known as DPC4), located on chromosome 18q21.1, that encodes a critical cytoplasmic mediator in the transforming growth factor-beta signaling pathway. The mutant SMAD4 proteins are predicted to be truncated at the carboxyl-terminus and lack sequences required for normal function. These results confirm an important role for SMAD4 in the development of gastrointestinal tumors.

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Read article at publisher's site: https://doi.org/10.1126/science.280.5366.1086

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