Familial colon cancer syndromes: an update of a rapidly evolving field.
Familial colon cancer syndromes: an update of a rapidly evolving field.
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DOI：
10.1007/s11894-012-0280-6
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发表时间：
2012-10-01
影响因子：
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通讯作者：
Ahnen, Dennis J
中科院分区：
文献类型：
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作者：
Patel, Swati G;Ahnen, Dennis J
结直肠癌（CRC）是世界范围内发病和死亡的主要原因。高达 30% 的 CRC 有家族因素的证据，约 5% 被认为是由于明确的遗传突变所致。本综述将重点关注个体遗传性 CRC 综合征的最新进展，包括 Lynch 综合征、家族性 CRC X 型、家族性腺瘤性息肉病、MutYH 相关性息肉病、Peutz-Jeghers 综合征、幼年性息肉病综合征、PTEN 错构瘤综合征和锯齿状息肉病综合征。遗传性结肠癌综合征领域的进展描绘了一个快速发展、迅速成熟和日益合作的领域，并为持续的研究和开发提供了许多机会。
Colorectal cancer (CRC) is a major cause of morbidity and mortality in the world. Up to 30% of CRCs have evidence of a familial component, and about 5% are thought to be due to well-characterized inherited mutations. This review will focus on recent developments in the understanding of the individual hereditary CRC syndromes, including Lynch syndrome, familial CRC type X, familial adenomatous polyposis, MutYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis syndrome, PTEN hamartomatous syndrome, and serrated polyposis syndrome. Advances within the area of hereditary colon cancer syndromes paint a picture of a rapidly moving, rapidly maturing, and increasingly collaborative field with many opportunities for ongoing research and development.