Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

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.

Type

Journal article

Journal

Science

Publication Date

15/05/1998

Volume

280

Pages

1086 - 1088

Keywords

Cell Membrane, Cell Nucleus, Chromosome Mapping, Chromosomes, Human, Pair 18, Colorectal Neoplasms, DNA-Binding Proteins, Female, Frameshift Mutation, Gastrointestinal Neoplasms, Genes, DCC, Genes, Tumor Suppressor, Genetic Predisposition to Disease, Germ-Line Mutation, Hamartoma Syndrome, Multiple, Humans, Intestinal Polyps, Male, Pedigree, Polymerase Chain Reaction, Sequence Deletion, Signal Transduction, Smad4 Protein, Trans-Activators, Transforming Growth Factor beta