A review of Juvenile Polyposis Syndrome

被引：101

作者：

Chow, E ^{[1
]}

Macrae, F ^{[1
]}

机构：

[1] Royal Melbourne Hosp, Familial Canc Clin, Dept Colorectal Med & Genet, Parkville, Vic 3050, Australia

来源：

JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY | 2005年 / 20卷 / 11期

关键词：

BMPR1A; colorectal cancer; genetics; Juvenile Polyposis Syndrome; SMAD4;

D O I：

10.1111/j.1440-1746.2005.03865.x

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Juvenile Polyposis Syndrome is an uncommon hamartomatous disorder with significant gastrointestinal malignant potential. Mutations in SMAD4 and BMPR1A, implicated in the Transforming Growth Factor beta pathway, have recently been characterized, and hold significance in the management of patients and at risk family members. This article reviews our knowledge to date of the genetics and clinicopathological features of the Juvenile Polyposis Syndrome, and discusses the current expert recommendations for genetic testing, disease screening and management. (C) 2005 Blackwell Publishing Asia Pty Ltd.

引用

收藏

页码：1634 / 1640

页数：7

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