Author of

• 35765

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  P57 - Tumor Biology and Systems Biology - Basic and Translational Science - DNA Repair (ID 195)

  • Event: WCLC 2020
  • Type: Posters
  • Track: Tumor Biology and Systems Biology - Basic and Translational Science
  • Presentations: 1
  • Moderators:
  • Coordinates: 1/28/2021, 00:00 - 00:00, ePoster Hall

  • 35769

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    P57.03 - Pathogenic Germline Mutations of Homologous Recombination Deficiency (HRD) Genes in Chinese Lung Cancer Patients (ID 1477)

    00:00 - 00:00  |  Presenting Author(s): Minghui Wang
    • Abstract

    Introduction
    

    Increasing evidence has showed that germline mutation in homologous recombination deficiency (HRD) is a predictive biomarker for PARP inhibitors in solid tumors, including breast cancer, ovarian cancer and prostate cancers. PARP inhibitors showed promising efficacy in small cell lung cancer in phase 2 trials. However, investigation of prevalence of germline HRD in Chinese lung cancer patients is limited.

    Methods
    

    We conducted a retrospective review of 6252 Chinese patients with lung cancer who underwent targeted next-generation sequencing (NGS) assay in a College of American Pathologists (CAP) accredited and Clinical Laboratory Improvement Amendments (CLIA) certified laboratory. Patients with pathogenic germline mutations, including HRD genes were identified.

    Results
    

    In total, 334 (5.3%) patients with lung cancer were identified to carry at least one pathogenic germline mutation in 44 potentially cancer predisposition genes. HRD genes were detected in 238 (3.8%) patients, accounting for 71.3% of total germline mutation. The frequency of germline HRD gene in different subset were 3.7% in adenocarcinoma (n=4693), 4.2% in squamous cell lung cancer (n=659), 2.6% in small cell lung cancer (n=229), and 14.8% in a relatively small group of lymphoepithelioma-like carcinoma (n=23). Specifically, most commonly mutated germline HRD genes were BRCA2 (0.59%), FANCA (0.50%), RAD50 (0.40%), ATM (0.38%), BRCA1 (0.29%) and PALB2 (0.27%). No significant correlation of germline HRD mutation with age, sex or smoke history was observed.

    Conclusion
    

    HRD genes were detected in 3.8% Chinese lung cancer patients, which are potential targets for selecting benefit population of PARP inhibitors.