穆提
MSH6型
MSH2
MLH1
种系突变
支票2
结直肠癌
生殖系
PTEN公司
癌症
生物
PMS2系统
遗传学
基因检测
肿瘤科
医学
癌症研究
突变
DNA错配修复
基因
细胞凋亡
PI3K/AKT/mTOR通路
作者
Duc M,Thinh H. Nguyen,Khuong Le,Linh-Thy Le,Bac Hoang Nguyen,Kien Trung Le,Thao Phuong Thi Doan,Chuong Ho,Hoai‐Nghia Nguyen,Tuan Tran,Hoàng Anh Vũ
摘要
Colorectal cancer (CRC) is one of the most common cancer globally. Understanding the genetic characteristics of CRC is essential for appropriate treatment and genetic counseling.The genetic profile of CRC tumor tissues was identified using next-generation sequencing of 17 target genes (MLH1, MSH2, MSH6, PMS2, EPCAM, APC, SMAD4, BMPR1A, MUTYH, STK11, PTEN, TP53, ATM, CDH1, CHEK2, POLE, and POLD1) in a cohort of 101 Vietnamese patients diagnosed with young-onset CRC. Corresponding germline genetic alterations of determined somatic mutations were subsequently confirmed from patients' blood samples.Somatic mutations were determined in 96 out of 101 CRC patients. Two-thirds of the tumors harbored more than two mutations, and the most prevalent mutated genes were TP53 and APC. Among confirmed germline mutations, 10 pathogenic mutations and 11 variants of unknown significance were identified.Given the burden of CRC and the gradually reducing cost of genetic testing, multigene panel screening can benefit young-onset CRC patients as well as their relatives.
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