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Somatic Mutations and Splicing Variants of Focal Adhesion Kinase in Non-Small Cell Lung Cancer

Bo Zhou1, Gui-Zhen Wang1, Zhe-Sheng Wen2

  • 1State Key Laboratory of Membrane Biology, Institute of Zoology, Chinese Academy of Sciences and University of Chinese Academy of Sciences, Beijing, China.

Journal of the National Cancer Institute
|November 1, 2017
PubMed
Abstract

Insights

Focal adhesion kinase (FAK) mutations and splicing variants are found in lung cancer, particularly in smokers. These FAK alterations enhance kinase activity and sensitivity to inhibitors, suggesting potential therapeutic targets.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Focal adhesion kinase (FAK) overexpression is noted in lung cancer.
  • Somatic mutations and alternative splicing of FAK are not well-understood in lung cancer.

Purpose of the Study:

  • Investigate somatic mutations and alternative splicing variants of FAK in lung cancer.
  • Analyze the functional impact and therapeutic potential of FAK alterations.

Main Methods:

  • Sequenced FAK in 91 lung cancer patients using tumor and normal tissues.
  • Analyzed TCGA RNA-seq data for FAK variants.
  • Assessed biological functions and inhibitor response of FAK variants in cell lines.

Main Results:

  • Identified FAK internal tandem duplication (ITD), A1004S mutation, exon 5-27 deletion, and FAK6,7 splicing variants in 7.7% of patients.
  • FAK alterations were more prevalent in smokers.
  • FAK-ITD and FAK6,7 variants showed increased autophosphorylation and sensitivity to FAK inhibitors, promoting cell proliferation and migration.

Conclusions:

  • Somatic mutations and splicing variants of FAK play a role in lung carcinogenesis.
  • FAK alterations represent potential biomarkers for FAK-targeted therapies in lung cancer.

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