Hereditary Colorectal Cancer in China: Current Status and Progress
Hereditary Colorectal Cancer in China: Current Status and Progress
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DOI：
10.1159/000434650
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发表时间：
2015-07
影响因子：
1.6
通讯作者：
Chen-Guang Li;Lang Yang;J. Sheng
中科院分区：
文献类型：
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作者：
Chen-Guang Li;Lang Yang;J. Sheng
背景：遗传性结直肠癌（colorectal cancer， CRC）约占CRC总发病率的5%。近几十年来，中国对遗传性结直肠癌的研究取得了很大进展。摘要：本文主要综述中国遗传性结直肠癌的遗传基础、临床病理特征、诊断、化学防治等方面的研究进展。关键信息：遗传性结直肠癌比散发性结直肠癌有更高的向肿瘤发展的风险。可通过临床表现或相关基因检测进行诊断，从而指导临床治疗，提高患者的生存率和生存质量。实际意义：遗传性CRC包括遗传性非息肉病性CRC （Lynch综合征）、家族性腺瘤性息肉病和其他罕见类型，如Peutz-Jeghers综合征和家族性少年息肉病。根据临床表现和家族史，在普通人群中筛查高疑似病例，通过遗传分析排除诊断。然后，合理选择化学预防、内镜干预或手术，以提高患者的生存率和生活质量。
Background: Hereditary colorectal cancer (CRC) accounts for about 5% of the total incidence of CRC. During the last decades, there have been great advances in the research of hereditary CRC in China. Summary: This review mainly focuses on advances of the genetic basis, clinicopathological features, diagnosis, chemoprevention and treatment of hereditary CRC in China. Key Message: Hereditary CRC has a higher risk to initiate the progression towards neoplasia than sporadic CRC. It can be diagnosed by clinical manifestation or the relevant genetic testing so as to guide the clinical treatment to improve the survival rate and survival quality of patients. Practical Implications: Hereditary CRC includes hereditary nonpolyposis CRC (Lynch syndrome), familial adenomatous polyposis and other rare types such as Peutz-Jeghers syndrome and familial juvenile polyposis. Based on the clinical manifestations and family history, highly suspected cases can be screened for in the general population and the diagnosis ruled out by genetic analysis. Then, chemoprevention, endoscopic intervention or surgery can be selected properly to improve patients' survival and quality of life.