Inventors:
James R. Howe - Iowa City IA
Lauri A. Aaltonen - Espoo, FI
Assignee:
University of Iowa Research Foundation - Iowa City IA
International Classification:
C12Q 100
US Classification:
435 6, 435 4, 435 71, 435 721, 435 723, 435 792, 435 795, 436 63, 436 64
Abstract:
Familial juvenile polyposis is an autosomal dominant disease characterized by a predisposition to hamartomatous polyps and gastrointestinal cancer. The present invention shows that JP families carry germline mutations in SMAD4/DPC4, a gene on chromosome 18q21. 1. The mutant SMAD4 proteins are truncated at the carboxyl-terminus and lack sequences required for normal function. Methods and compositions for the detection and amelioration of FJP and gastrointestinal tumors are provided.