Heinen Christopher D
Center for Molecular Medicine and Neag Comprehensive Cancer Center, University of Connecticut Health, Farmington, CT 06030, USA.
DNA Repair (Amst). 2016 Feb;38:127-134. doi: 10.1016/j.dnarep.2015.11.025. Epub 2015 Dec 2.
We have currently entered a genomic era of cancer research which may soon lead to a genomic era of cancer treatment. Patient DNA sequencing information may lead to a personalized approach to managing an individual's cancer as well as future cancer risk. The success of this approach, however, begins not necessarily in the clinician's office, but rather at the laboratory bench of the basic scientist. The basic scientist plays a critical role since the DNA sequencing information is of limited use unless one knows the function of the gene that is altered and the manner by which a sequence alteration affects that function. The role of basic science research in aiding the clinical management of a disease is perhaps best exemplified by considering the case of Lynch syndrome, a hereditary disease that predisposes patients to colorectal and other cancers. This review will examine how the diagnosis, treatment and even prevention of Lynch syndrome-associated cancers has benefitted from extensive basic science research on the DNA mismatch repair genes whose alteration underlies this condition.
我们目前已进入癌症研究的基因组时代，这可能很快会引领癌症治疗的基因组时代。患者的DNA测序信息可能会带来针对个体癌症管理以及未来癌症风险的个性化方法。然而，这种方法的成功并非一定始于临床医生的办公室，而是始于基础科学家的实验室工作台。基础科学家起着关键作用，因为除非了解发生改变的基因的功能以及序列改变影响该功能的方式，否则DNA测序信息的用途有限。基础科学研究在辅助疾病临床管理方面所起的作用，或许通过林奇综合征的病例能得到最佳体现，林奇综合征是一种使患者易患结直肠癌和其他癌症的遗传性疾病。本综述将探讨林奇综合征相关癌症的诊断、治疗乃至预防如何受益于对DNA错配修复基因的广泛基础科学研究，而这种疾病正是由这些基因的改变所引发的。
