Document Type

Patent

Patent Number

US Patent 6,423,491

Patent agency

United States Patent and Trademark Office

Publication Date

7-23-2002

Assignee

University of Iowa Research Foundation (Iowa City, IA, US)

Application Number

09/312,748

Date Filed

1999-05-13

Total Pages

50 pages

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.

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URL

https://ir.uiowa.edu/patents/310