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- W3136366379 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." @default.
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- W3136366379 date "2021-03-01" @default.
- W3136366379 modified "2023-10-16" @default.
- W3136366379 title "P57.03 Pathogenic Germline Mutations of Homologous Recombination Deficiency (HRD) Genes in Chinese Lung Cancer Patients" @default.
- W3136366379 doi "https://doi.org/10.1016/j.jtho.2021.01.947" @default.
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