Tumor mutation burden and recurrent tumors in hereditary lung cancer

Yi Chiung Hsu, Ya Hsuan Chang, Gee Chen Chang, Bing Ching Ho, Shin Sheng Yuan, Yu Cheng Li, Jhih Wun Zeng, Sung Liang Yu, Ker Chau Li, Pan Chyr Yang, Hsuan Yu Chen

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


Lung cancer is the leading cause of cancer death worldwide and cancer relapse accounts for the majority of cancer mortality. The mechanism is still unknown, especially in hereditary lung cancer without known actionable mutations. To identify genetic alternations involved in hereditary lung cancer and relapse is urgently needed. We collected genetic materials from a unique hereditary lung cancer patient's blood, first cancer tissue (T1), adjacent normal tissue (N1), relapse cancer tissue (T2), and adjacent normal tissue (N2) for whole genome sequencing. We identified specific mutations in T1 and T2, and attributed them to tumorigenesis and recurrence. These tumor specific variants were enriched in antigen presentation pathway. In addition, a lung adenocarcinoma cohort from the TCGA dataset was used to confirm our findings. Patients with high mutation burdens in tumor specific genes had decreased relapse-free survival (P = 0.017, n = 186). Our study may provide important insight for designing immunotherapeutic treatment for hereditary lung cancer.

Original languageEnglish
Pages (from-to)2179-2187
Number of pages9
JournalCancer Medicine
Issue number5
StatePublished - May 2019


  • hereditary lung cancer
  • mutation load
  • nonsmoker
  • recurrence
  • whole genome sequencing


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