Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 129C, Issue 1, Pages 44-55Publisher
WILEY
DOI: 10.1002/ajmg.c.30020
Keywords
juvenile polyposis; Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; SMAD4; BMPR1A; PTEN
Categories
Ask authors/readers for more resources
Juvenile polyps are hamartomatous polyps found primarily in infants and children, and in association with juvenile polyposis (JP, OMIM# 174900), Cowden syndrome (CS; OMIM# 158350), and Bannayan-Riley-Ruvalcaba syndrome (BRRS; OMIM# 153480). Although solitary juvenile polyps are benign lesions, when present in JP patients they may lead to gastrointestinal cancers. Germline mutations in MADH4 and BMPA1A predispose to JP, and both genes are involved in TGF-beta superfamily signaling pathways. In CS and BRRS, juvenile polyps are a less consistent feature, and CS patients are at risk for breast and thyroid cancers. Mutations of the tumor suppressor gene PTEN have been found in the germline of both CS and BRRS patients. Despite different underlying genetic mechanisms, these and other syndromes share the same phenotypic feature of juvenile polyps. (C) 2004 Wiley-Liss, Inc.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available