期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
卷 129C, 期 1, 页码 44-55出版社
WILEY
DOI: 10.1002/ajmg.c.30020
关键词
juvenile polyposis; Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; SMAD4; BMPR1A; PTEN
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.
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