Boland C Richard, Koi Minoru, Chang Dong K, Carethers John M
Department of Internal Medicine and Sammons Cancer Center, Baylor University Medical Center (250 Hoblitzelle), Dallas, TX 75246, USA.
Fam Cancer. 2008;7(1):41-52. doi: 10.1007/s10689-007-9145-9. Epub 2007 Jul 17.
Lynch syndrome is an inherited disease caused by a germline mutation in one of four DNA mismatch repair (MMR) genes. The clinical manifestations can be somewhat variable depending upon which gene is involved, and where the mutation occurs. Moreover, the approach to the diagnosis of Lynch syndrome is becoming more complex as more is learned about the disease, and one needs to understand how the DNA MMR proteins function, and what makes them malfunction, to have an optimal appreciation of how to interpret diagnostic studies such as microsatellite instability and immunohistochemistry of the DNA MMR proteins. Finally, an understanding of the role of the DNA MMR system in regulation of the cell cycle and the response to DNA damage helps illuminate the differences in natural history and response to chemotherapeutic agents seen in Lynch syndrome.
林奇综合征是一种由四个DNA错配修复（MMR）基因之一的种系突变引起的遗传性疾病。临床表现可能因涉及的基因以及突变发生的位置而有所不同。此外，随着对该疾病了解的增多，林奇综合征的诊断方法变得更加复杂，人们需要了解DNA错配修复蛋白如何发挥功能以及导致其功能异常的原因，以便更好地理解如何解读诸如微卫星不稳定性和DNA错配修复蛋白免疫组化等诊断研究。最后，了解DNA错配修复系统在细胞周期调控和对DNA损伤反应中的作用，有助于阐明林奇综合征在自然病程和对化疗药物反应方面的差异。
