Hampel Heather
Division of Human Genetics, Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, Columbus, OH 43240, USA.
Surg Oncol Clin N Am. 2009 Oct;18(4):687-703. doi: 10.1016/j.soc.2009.08.001.
This article focuses on genetic testing for hereditary colorectal cancer syndromes. Genetic testing is now available in North America for all of the known hereditary colorectal cancer genes. In addition, most of these tests have improved significantly in the past few years with the inclusion of techniques to detect large rearrangements. As a result, clinicians are in a better position than ever to help families with these syndromes to identify the underlying genetic cause. This identification will ensure that they receive appropriate management, and will enable their relatives to determine their precise risks and to tailor their cancer surveillance.
本文聚焦于遗传性结直肠癌综合征的基因检测。目前在北美，针对所有已知的遗传性结直肠癌基因都可以进行基因检测。此外，在过去几年中，随着用于检测大片段重排技术的加入，这些检测中的大多数都有了显著改进。因此，临床医生比以往任何时候都更有能力帮助患有这些综合征的家庭确定潜在的遗传病因。这一确定将确保他们得到适当的管理，并使他们的亲属能够确定自己的确切风险并调整癌症监测方案。
