Germline mutations in lung cancer

Respir Investig. 2019 May;57(3):201-206. doi: 10.1016/j.resinv.2018.12.005. Epub 2019 Jan 11.

Abstract

Genetic testing for alterations in oncogenic driver genes has become essential and standard in the clinical practice of the treatment of lung cancer. Germline mutations potentially predisposing patients to lung cancer are rare; however, with the introduction of next-generation sequencing in the clinical practice of lung cancer, the identification of potentially predisposing germline abnormalities is becoming more common. In addition, liquid biopsy, which analyzes cell-free DNA in blood, increases the possibility of detecting these germline mutations. In this review, we summarize the germline mutations detected in lung cancer patients and briefly describe the future perspectives.

Keywords: Germline mutation; Liquid biopsy; Lung cancer; Next-generation sequencing.

Publication types

  • Review

MeSH terms

  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Germ-Line Mutation*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Liquid Biopsy
  • Lung Neoplasms / genetics*
  • Precision Medicine