全外显子组测序技术在结直肠癌研究中的应用进展  

Progress in the application of whole exome sequencing in research for colorectal cancer

作　　者：谢承霖 沈鑫 李占武[1] XIE Chenglin;SHEN Xin;LI Zhanwu(Department of General Surgery,Affiliated Zhongshan Hospital of Dalian University,Dalian,Liaoning 116001,China)

机构地区：[1]大连大学附属中山医院普通外科,辽宁大连116001

出　　处：《中国普通外科杂志》2021年第4期464-470,共7页China Journal of General Surgery

摘　　要：结直肠癌(CRC)是常见的消化道肿瘤,其治疗以手术切除为主,同时辅以放化疗。目前治疗模式已经从传统的基于"群体化"诊治进入了精准的"个体化"医疗。而精准医疗是通过基因组检测寻找病因和治疗的靶点,借助癌症基因组测序和信息分析,最终形成对癌症分子标记物筛选、精准诊断分型及精准治疗的体系。全外显子组测序(WES)是一项新的基因测序技术,在人类复杂疾病领域和多种恶性肿瘤中逐渐被广泛应用,其在CRC发病机制、治疗、转移风险评估以及预后判断等方面的研究应用也取得了一定的进展。Colorectal cancer (CRC) is a common digestive tract tumor for which surgical resection is mainstay of treatment,or in combination with chemotherapy and radiotherapy.At present,the treatment mode has evolved from the traditional "group-based" diagnosis and treatment to the precise "individualized" therapy.Precision medicine is to find the cause of the disease and the therapeutic targets through genome detection,and finally forms a diagnosis and treatment system involving the screening of cancer-related molecular markers,accurate diagnosis and classification,and precise treatment with the help of cancer genome sequencing and information analysis.Whole exome sequencing (WES) is a new gene sequencing technique,which has been widely applied in the fields of complex human diseases and various malignant tumors.Some progress has also been achieved in its application in studies concerning the pathogenesis,treatment,metastasis risk assessment and prognosis estimation of CRC.

关 键 词：结直肠肿瘤 全外显子组测序 精准医学 综述 

分 类 号：R735.3[医药卫生—肿瘤]