Open AccessTumor mutation burden and recurrent tumors in hereditary lung cancer
Author(s) -
Hsu YiChiung,
Chang YaHsuan,
Chang GeeChen,
Ho BingChing,
Yuan ShinSheng,
Li YuCheng,
Zeng JhihWun,
Yu SungLiang,
Li KerChau,
Yang PanChyr,
Chen HsuanYu
Publication year - 2019
Publication title -
cancer medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.403
H-Index - 53
ISSN - 2045-7634
DOI - 10.1002/cam4.2120
Subject(s) - lung cancer , cancer , carcinogenesis , medicine , adenocarcinoma , oncology , mutation , cancer research , gene , biology , genetics
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.