Hardiman Karin M
Division of Colon and Rectal Surgery, Department of Surgery, University of Michigan, Ann Arbor, Michigan.
Clin Colon Rectal Surg. 2018 May;31(3):147-152. doi: 10.1055/s-0037-1602234. Epub 2018 Apr 1.
Our understanding of the genetics of colorectal cancer has changed dramatically over recent years. Colorectal cancer can be classified in multiple different ways. Along with the advent of whole-exome sequencing, we have gained an understanding of the scale of the genetic changes found in sporadic colorectal cancer. We now know that there are multiple pathways that are commonly involved in the evolution of colorectal cancer including Wnt/β-catenin, RAS, EGFR, and PIK3 kinase. Another recent leap in our understanding of colorectal cancer genetics is the recognition that many, if not all tumors, are actually genetically heterogeneous within individual tumors and also between tumors. Recent research has revealed the prognostic and possibly therapeutic implications of various specific mutations, including specific mutations in and . There is increasing interest in the use of mutation testing for screening and surveillance through stool and circulating DNA testing. Recent advances in translational research in colorectal cancer genetics are dramatically changing our understanding of colorectal cancer and will likely change therapy and surveillance in the near future.
近年来,我们对结直肠癌遗传学的认识发生了巨大变化。结直肠癌可以通过多种不同方式进行分类。随着全外显子测序的出现,我们对散发性结直肠癌中发现的基因变化规模有了认识。我们现在知道,有多种途径通常参与结直肠癌的演变,包括Wnt/β-连环蛋白、RAS、表皮生长因子受体(EGFR)和磷脂酰肌醇-3激酶(PIK3激酶)。我们对结直肠癌遗传学认识的另一个近期飞跃是认识到,许多(如果不是所有)肿瘤在个体肿瘤内部以及肿瘤之间实际上是基因异质性的。最近的研究揭示了各种特定突变的预后意义以及可能的治疗意义,包括[此处原文缺失具体基因名称]和[此处原文缺失具体基因名称]中的特定突变。人们越来越关注通过粪便和循环DNA检测进行突变检测以用于筛查和监测。结直肠癌遗传学转化研究的最新进展正在极大地改变我们对结直肠癌的认识,并可能在不久的将来改变治疗和监测方式。