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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.

Original publication




Journal article



Publication Date





1086 - 1088


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