早发型结直肠癌遗传分子特征的研究进展

Research Progress on Genetic Characteristics of Earlyonset Colorectal Cancer

结直肠癌(colorectal cancer,CRC)目前居癌症死亡的第3位,尤其是早发型结直肠癌(early-onset colorectal cancer,EOCRC)的发病率在全球范围内日益增长,但这一增长的原因尚不清楚。临床研究通过基因测序等方法对其进行分析,发现EOCRC的患者具有标志性的遗传分子特征。全文从EOCRC的遗传学、分子表型以及基因突变等分子特征的角度出发,对EOCRC遗传分子特征的研究进展作一综述,以期通过评估EOCRC的遗传和分子差异,为临床提供相应的指导,以便为无症状有风险的年轻个体的针对性筛查提供信息,从而达到早期发现、早期治疗。

Colorectal cancer(CRC) is the third leading cause of cancer deaths worldwide. The incidence of early-onset colorectal cancer(EOCRC) in particular is increasing currently, but the reasons for this trend are unclear. Clinical studies have shown that patients with EOCRC have signature genetic molecular features. This article reviews the research progress in the genetic characteristics of EOCRC patients, focusing on gene mutations and molecular phenotypes of EOCRC to provide information for targeted screening of asymptomatic young individuals at risk facilitating early diag-nosis and early treatment.