https://scholars.lib.ntu.edu.tw/handle/123456789/502807
標題: | Tumor mutation burden and recurrent tumors in hereditary lung cancer | 作者: | Hsu Y.-C. Chang Y.-H. Chang G.-C. Ho B.-C. Yuan S.-S. Li Y.-C. Zeng J.-W. SUNG-LIANG YU Li K.-C. PAN-CHYR YANG Chen H.-Y. |
公開日期: | 2019 | 卷: | 8 | 期: | 5 | 起(迄)頁: | 2179-2187 | 來源出版物: | Cancer Medicine | 摘要: | 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. ? 2019 The Authors. Cancer Medicine published by John Wiley & Sons Ltd. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/502807 | ISSN: | 2045-7634 | DOI: | 10.1002/cam4.2120 | SDG/關鍵字: | anaplastic lymphoma kinase; B Raf kinase; epidermal growth factor receptor; epidermal growth factor receptor 2; genomic DNA; K ras protein; tumor marker; adult; ALK gene; antigen presentation; Article; blood sampling; BRAF gene; cancer patient; cancer recurrence; cancer staging; cancer tissue; case report; clinical article; cohort analysis; controlled study; DNA extraction; EGFR gene; EML4 gene; family history; female; genetic database; genetic heterogeneity; germline mutation; HER2 gene; hereditary tumor syndrome; human; human tissue; informed consent; lung adenocarcinoma; lung carcinogenesis; middle aged; missense mutation; oncogene; oncogene K ras; priority journal; recurrence free survival; tumor volume; whole genome sequencing; aged; gene regulatory network; genetic predisposition; genetics; germline mutation; lung adenocarcinoma; lung tumor; male; missense mutation; mortality; procedures; survival analysis; tumor recurrence; Adenocarcinoma of Lung; Adult; Aged; Antigen Presentation; Biomarkers, Tumor; Cohort Studies; Female; Gene Regulatory Networks; Genetic Predisposition to Disease; Germ-Line Mutation; Humans; Lung Neoplasms; Male; Middle Aged; Mutation, Missense; Neoplasm Recurrence, Local; Survival Analysis; Whole Genome Sequencing |
顯示於: | 醫學檢驗暨生物技術學系 |
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