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Poster Display session 1

3909 - Spectrum of pathogenic germline mutations in Chinese lung cancer patients through next-generation sequencing


28 Sep 2019


Poster Display session 1


Basic Science

Tumour Site

Thoracic Malignancies


Ying Huang


Annals of Oncology (2019) 30 (suppl_5): v1-v24. 10.1093/annonc/mdz238


Y. Huang1, P. Tian2, Y. Zhang3, Z. Zhao3, S. Cai3

Author affiliations

  • 1 Department Of Respiratory, First Affiliated Hospital of Army Military Medical University, 400038 - Chongqing/CN
  • 2 Department Of Respiratory And Critical Care Medicine, West China Hospital, Sichuan University, 610041 - Chengdu/CN
  • 3 Medical Department, 3D Medcines Inc, 201114 - Shanghai/CN


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Abstract 3909


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.


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.


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).


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.


Has not received any funding.


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.

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