基于全外顯子組測序技術的前列腺癌基因突變研究進展

Research progress on prostate cancer gene mutations based on whole-exome sequencing technology

ZHANG Kaige1 ，TAO Ning2 ，AN Hengqing1 （1.First Afiliated Hospital，2.School of Public Health，Xinjiang Medical University，Urumqi 83000o，China）

ABSTRACT： Prostate cancer （PCa）isone of the most common cancer among men worldwide.With the continuous developmentof genomics technology，alarge numberof studies haveconfirmedthat diferenttypesof gene mutationsaffectthe clinical manifestationsprogresionand prognosisofPCa.Tumorgenomicsresearchcangodeepintothegene leveltoexplore thecauses of PCa，explore posible biomarkers，and identifypotentialtherapeutictargets.This paper discuses thedevelopment and aplication of whole-exome sequencing（WES） in prostate cancer，including DNA damage repair（DDR） related gene mutations，homologous recombination repair（HRR）key gene mutations，other HRR related gene mutations，mismatch repair related gene mutationsandothergene mutations，differences inPCagene mutations between differentracesanddifferences in localized PCaand metastatic PCagene mutations，soas to providereference forthe stratified diagnosis and individualized treatment of PCa.

KEY WORDS：prostate cancer;whole-exon sequencing;second-generation sequencing；gene mutation； targeted therapy摘要：前列腺癌（PCa）是全球范圍男性最常見的癌癥之一。（剩余16019字）