UKM Medical Molecular Biology Institute (UMBI), Universiti Kebangsaan Malaysia, Cheras, Kuala Lumpur 56000, Malaysia.
Biomolecules. 2020 Mar 20;10(3):476. doi: 10.3390/biom10030476.
Global statistics have placed colorectal cancer (CRC) as the third most frequently diagnosed cancer and the fourth principal cause of cancer-related deaths worldwide. Improving survival for CRC is as important as early detection. Personalized medicine is important in maximizing an individual's treatment success and minimizing the risk of adverse reactions. Approaches in achieving personalized therapy in CRC have included analyses of specific genes with its clinical implications. Tumour genotyping via next-generation sequencing has become a standard practice to guide clinicians into predicting tumor behaviour, disease prognosis, and treatment response. Nevertheless, better prognostic markers are necessary to further stratify patients for personalized treatment plans. The discovery of new markers remains indispensable in providing the most effective chemotherapy in order to improve the outcomes of treatment and survival in CRC patients. This review aims to compile and discuss newly discovered, less frequently mutated genes in CRC. We also discuss how these mutations are being used to assist therapeutic decisions and their potential prospective clinical utilities. In addition, we will summarize the importance of profiling the large genomic rearrangements, gene amplification, and large deletions and how these alterations may assist in determining the best treatment option for CRC patients.
全球统计数据将结直肠癌（CRC）列为全球第三大最常见的癌症和第四大癌症相关死亡原因。提高 CRC 的生存率与早期发现同样重要。个性化医学对于最大限度地提高个体治疗成功率和最小化不良反应风险至关重要。在 CRC 中实现个性化治疗的方法包括对具有临床意义的特定基因进行分析。通过下一代测序进行肿瘤基因分型已成为指导临床医生预测肿瘤行为、疾病预后和治疗反应的标准实践。然而，需要更好的预后标志物来进一步对患者进行分层，以制定个性化的治疗计划。为了提高 CRC 患者的治疗效果和生存率，发现新的标志物仍然是不可或缺的。本综述旨在编译和讨论 CRC 中发现的新的、突变频率较低的基因。我们还讨论了这些突变如何被用于辅助治疗决策及其潜在的临床应用前景。此外，我们将总结分析大型基因组重排、基因扩增和大片段缺失的重要性，以及这些改变如何有助于确定 CRC 患者的最佳治疗选择。
