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Minghui Wang

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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
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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


      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.


      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.


      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.


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