Abstract 3909
Background
Lung cancer is currently a leading cause of cancer-associated mortality worldwide. Despite the increasing evidences of cancer-related variants that were associated with lung cancer risk, investigations of genetic factors and their roles in genetic susceptibility to lung cancer were limited.
Methods
Genomic profiling of DNA was performed through next-generation sequencing (NGS) on tissue or liquid biopsy from 3,651 Chinese patients with lung cancer between January 01, 2017 and May 07, 2019 in 3D Medicines database. Patients with germline mutations were identified, and their clinical information were collected.
Results
Of 3,651 patients with lung cancer, 58 (1.59%) were identified to carry one pathogenic germline mutations in 14 potentially cancer predisposition genes, with a frequency of 1.45% in lung adenocarcinoma (N = 2837), 1.96% in squamous cell lung cancer (N = 612), and 3.12% in small cell lung cancer (N = 160), respectively. None has been found in the small subset of adenosquamous lung carcinoma (N = 42). Amongst all, the highest mutation prevalence was found in BRCA2 (0.47%), BRCA1 (0.22%), CHEK2 (0.22%), TP53 (0.19%), and RAD50 (0.11%). Notably, a majority (57.1%) of the detected germline mutations fell in DNA damage repair (DDR) pathways, including BRCA2, BRCA1, CHEK2, RAD50, ATM, ATR, PALB2, and MRE11A. No significant correlation of the germline mutation prevalence and patients’ histology type was observed (P = 0.26).
Conclusions
This is the first systematic study in germline mutations in Chinese patients with sporadic lung cancer. Our study uncovered the mutation spectrum in Chinese lung cancer population and provided valuable clues for the assessment of the genetic susceptibility to lung cancer.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
First Affiliated Hospital of Army Military Medical University.
Funding
Has not received any funding.
Disclosure
Y. Zhang: Full/Part-time employment: 3D Medicines Inc. Z. Zhao: Full/Part-time employment: 3D Medicines Inc. S. Cai: Full/Part-time employment: 3D Medicines Inc. All other authors have declared no conflicts of interest.
Resources from the same session
2045 - The analysis of treatment sequences and clinical outcomes of thymic carcinoma
Presenter: Arakaki Motoko
Session: Poster Display session 1
Resources:
Abstract
4785 - Transcriptomic Difference of Thymoma and Thymic Carcinoma
Presenter: Naixin Liang
Session: Poster Display session 1
Resources:
Abstract
2864 - A Phase II Trial of Preoperative Chemoradiotherapy and Pembrolizumab for Locally Advanced Esophageal Squamous Cell Carcinoma (ESCC)
Presenter: Seoyoung Lee
Session: Poster Display session 1
Resources:
Abstract
5015 - The study of tumor associated exosomes in crosstalk between esophageal carcinoma and lymphatic endothelial cells
Presenter: Weimin Mao
Session: Poster Display session 1
Resources:
Abstract
1339 - Up-regulation of IBSP expression predicts poor prognosis of Esophageal Squamous Cell Carcinoma patients
Presenter: Mingyue Wang
Session: Poster Display session 1
Resources:
Abstract
4083 - PD-L1 expression in primary tumour vs metastatic samples in the Phase 3 MYSTIC study in first-line metastatic (m) NSCLC
Presenter: Niels Reinmuth
Session: Poster Display session 1
Resources:
Abstract
5113 - Assessing the impact of subsequent checkpoint inhibitor (CPI) treatment on overall survival: post hoc analyses from the phase 3 JAVELIN Lung 200 study of avelumab vs docetaxel in platinum-treated locally advanced/metastatic non-small cell lung cancer (NSCLC)
Presenter: Fabrice Barlesi
Session: Poster Display session 1
Resources:
Abstract
4256 - Long-term avelumab treatment in patients with advanced non-small cell lung cancer (NSCLC): post hoc analyses from JAVELIN Solid Tumor
Presenter: Borys Hrinczenko
Session: Poster Display session 1
Resources:
Abstract
4305 - Effectiveness and safety of nivolumab in the treatment of lung cancer patients in France: Updated survival and subgroup analysis from the real-world EVIDENS study
Presenter: Fabrice Barlesi
Session: Poster Display session 1
Resources:
Abstract
5128 - IO-Synthesise NSCLC: A pooled analysis of real-world survival outcomes for non-small cell lung cancer patients treated with nivolumab in France and Germany
Presenter: Adrien Dixmier
Session: Poster Display session 1
Resources:
Abstract