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

研究成果: 雜誌貢獻期刊論文同行評審

15 引文 斯高帕斯(Scopus)


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.

頁(從 - 到)2179-2187
期刊Cancer Medicine
出版狀態已出版 - 5月 2019


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