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Updated: Jan 30, 2026

Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
Published on: October 10, 2025
Germline mutations in lung cancer
Takehito Shukuya1, Kazuhisa Takahashi2
1Department of Respiratory Medicine, Juntendo University School of Medicine, Tokyo, Japan; Division of Medical Oncology, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.
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.
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