Brosens Lodewijk A A, van Hattem W Arnout, Jansen Marnix, de Leng Wendy W J, Giardiello Francis M, Offerhaus G Johan A
Department of Pathology, University Medical Center, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands.
Curr Mol Med. 2007 Feb;7(1):29-46. doi: 10.2174/156652407779940404.
Colorectal cancer is one of the leading causes of cancer-related death in the Western society, and the incidence is rising. Rare hereditary gastrointestinal polyposis syndromes that predispose to colorectal cancer have provided a model for the investigation of cancer initiation and progression in the general population. Many insights in the molecular genetic basis of cancer have emerged from the study of these syndromes. This review discusses the genetics and clinical manifestations of the three most common syndromes with gastrointestinal polyposis and an increased risk of colorectal cancer: familial adenomatous polyposis (FAP), juvenile polyposis (JP) and Peutz-Jeghers syndrome (PJS).
结直肠癌是西方社会癌症相关死亡的主要原因之一，且发病率正在上升。易患结直肠癌的罕见遗传性胃肠道息肉病综合征为普通人群中癌症发生和发展的研究提供了一个模型。对这些综合征的研究已揭示了癌症分子遗传基础的许多见解。本综述讨论了三种最常见的伴有胃肠道息肉病且患结直肠癌风险增加的综合征的遗传学和临床表现：家族性腺瘤性息肉病（FAP）、幼年性息肉病（JP）和黑斑息肉综合征（PJS）。
