Mutation screening in juvenile polyposis syndrome.

ABSTRACT: Juvenile polyposis syndrome (JPS) is an autosomal dominant cancer predisposition syndrome characterized by congenital anomalies, hamartomatous polyps in the gastrointestinal tract, and the development of tumors in these tissues. The diagnosis of JPS is often difficult because of the phenotypic overlap with other hamartomatous polyposis syndromes. Germline mutations have been identified in MADH4 and BMPR1A, aiding in presymptomatic genetic testing. In this study, we describe the results from 3 years of molecular diagnostic screening in JPS. Seventy unrelated individuals referred to our lab for JPS testing were examined through the sequence analysis of coding regions and exon-intron boundaries in both genes. Germline mutations were identified in 30% of cases, with 11.4% in BMPR1A and 18.6% i

SUBMITTER: Pyatt RE 

PROVIDER: S-EPMC1867574 | biostudies-literature | 2006 Feb

REPOSITORIES: biostudies-literature