Molecular testing for colorectal cancer:Clinical applications  

作　　者：Evgeny Imyanitov Ekaterina Kuligina 

机构地区：[1]Department of Tumor Biology,N.N.Petrov Institute of Oncology,St.-Petersburg 197758,Russia [2]Department of Medical Genetics,St.-Petersburg Pediatric Medical University,Saint-Petersburg 194100,Russia [3]Department of Oncology,I.I.Mechnikov North-Western Medical University,Saint-Petersburg 191015,Russia

出　　处：《World Journal of Gastrointestinal Oncology》2021年第10期1288-1301,共14页世界胃肠肿瘤学杂志（英文版）（电子版）

基　　金：Ministry of Science and Higher Education of the Russian Federation,No.075-15-2020-789.

摘　　要：Molecular genetic analysis is an integral part of colorectal cancer(CRC)management.The choice of systemic therapy for CRC is largely based on the results of tumor molecular testing.Evaluation of the KRAS and NRAS gene status is mandatory for consideration of anti-epidermal growth factor receptor(EGFR)therapy.Tumors with the BRAF V600E substitution are characterized by aggressive behaviour,may require intensified cytotoxic regimens and benefit from combined BRAF and EGFR inhibition.The inactivation of DNA mismatch repair(MMR),or MUTYH gene,or DNA polymerase epsilon results in excessive tumor mutational burden;these CRCs are highly antigenic and therefore sensitive to immune checkpoint inhibitors.Some CRCs are characterized by overexpression of the HER2 oncogene and respond to the appropriate targeted therapy.There are CRCs with clinical signs of hereditary predisposition to this disease,which require germline genetic testing.Liquid biopsy is an emerging technology that has the potential to assist CRC screening,control the efficacy of surgical intervention and guide disease monitoring.The landscape of CRC molecular diagnosis is currently undergoing profound changes due to the increasing use of next generation sequencing.

关 键 词：Colorectal cancer Anti-epidermal growth factor receptor therapy KRAS NRAS BRAF HER2 Microsatellite instability MUTYH Hereditary cancer 

分 类 号：R735.34[医药卫生—肿瘤]