• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>European journal of gastroenterology and hepatology >Critical issues in the identification and management of patients with hereditary non-polyposis colorectal cancer.
【24h】

Critical issues in the identification and management of patients with hereditary non-polyposis colorectal cancer.

机译：遗传性非息肉性结直肠癌患者的识别和管理中的关键问题。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Inherited defects of the DNA mismatch repair system are the underlying cause of the hereditary non-polyposis colorectal cancer (HNPCC) syndrome and are responsible for 3-4% of all cases of colorectal cancer. The HNPCC syndrome also carries the risk of development of additional malignancies such as endometrial, stomach, small bowel, ovarian, pancreas, ureter, renal pelvis, biliary tract and brain tumours. Amsterdam I and II criteria have been developed to clinically identify affected families. The revised Bethesda criteria function to select patients whose tumours should be investigated for microsatellite instability, the molecular hallmark of defects of the DNA mismatch repair proteins such as hMLH1 and hMSH2. Microsatellite instability-positive cases should be investigated for germline defects in the respective genes. This facilitates identification of affected family members that have to be included in special surveillance programmes, while unaffected family members are spared the physical discomfortand psychological burden of cancer surveillance. In this article, strategies for effective clinical as well as genetic detection of affected individuals, surveillance and appropriate preventive measures are discussed. Open questions include the role of chemoprevention, preventive surgical procedures, new endoscopic procedures as well as non-invasive 'virtual colonoscopy' and the exact implications of some mutations of the DNA mismatch repair genes. Perhaps most importantly, efforts should be made to more efficiently transfer information about the HNPCC syndrome and the cancer risk associated with it from the specialists to primary health care providers and the general public.
机译：DNA错配修复系统的遗传缺陷是遗传性非息肉病性大肠癌（HNPCC）综合征的根本原因，占所有大肠癌病例的3-4％。 HNPCC综合征还带有发生其他恶性肿瘤的风险，例如子宫内膜，胃，小肠，卵巢，胰腺，输尿管，肾盂，胆道和脑肿瘤。已经制定了阿姆斯特丹I级和II级标准来临床确定受影响的家庭。修改后的Bethesda标准可用于选择需要对其肿瘤进行微卫星不稳定性检查的患者，微卫星不稳定性是DNA不匹配修复蛋白（例如hMLH1和hMSH2）缺陷的分子标记。应调查微卫星不稳定性阳性病例中各个基因的种系缺陷。这有助于确定必须包括在特殊监视计划中的受影响家庭成员，而未受影响的家庭成员则免于癌症监视带来的身体不适和心理负担。在这篇文章中，讨论了有效的临床以及对受影响个体进行基因检测，监测和适当预防措施的策略。尚待解决的问题包括化学预防，预防性外科手术，新的内窥镜手术以及无创“虚拟结肠镜检查”的作用以及DNA错配修复基因某些突变的确切含义。也许最重要的是，应该努力将有关HNPCC综合征和与之相关的癌症风险的信息更有效地从专家转移到初级卫生保健提供者和公众。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号