Identification of Genetic Mutations in Cancer: Challenge and Opportunity in the New Era of Targeted Therapy

Jing Jin, Xu Wu, Jianhua Yin, Mingxing Li, Jing Shen, Jing Li, Yueshui Zhao, Qijie Zhao, Jingbo Wu, Qinglian Wen, Chi Hin Cho, Tao Yi*, Zhangang Xiao*, Liping Qu

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

64 Citations (Scopus)
52 Downloads (Pure)


The introduction of targeted therapy is the biggest success in the treatment of cancer in the past few decades. However, heterogeneous cancer is characterized by diverse molecular alterations as well as multiple clinical profiles. Specific genetic mutations in cancer therapy targets may increase drug sensitivity, or more frequently result in therapeutic resistance. In the past 3 years, several novel targeted therapies have been approved for cancer treatment, including drugs with new targets (i.e., anti-PD1/PDL1 therapies and CDK4/6 inhibitors), mutation targeting drugs (i.e., the EGFR T790M targeting osimertinib), drugs with multiple targets (i.e., the EGFR/HER2 dual inhibitor neratinib) and drug combinations (i.e., encorafenib/binimetinib and dabrafenib/trametinib). In this perspective, we focus on the most up-to-date knowledge of targeted therapy and describe how genetic mutations influence the sensitivity of targeted therapy, highlighting the challenges faced within this era of precision medicine. Moreover, the strategies that deal with mutation-driven resistance are further discussed. Advances in these areas would allow for more targeted and effective therapeutic options for cancer patients.
Original languageEnglish
Article number263
Number of pages7
JournalFrontiers in Oncology
Publication statusPublished - 16 Apr 2019

Scopus Subject Areas

  • Oncology
  • Cancer Research

User-Defined Keywords

  • Cyclin-dependent kinases 4/6
  • EGFR
  • PD-1/PD-L1
  • Resistance
  • Somatic mutation
  • Targeted therapy


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