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Prevalence and clinical significance of pathogenic germline BRCA1/2 mutations in Chinese non-small cell lung cancer patients (vol 16, pg 556, 2019)

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收录情况: ◇ SCIE ◇ 统计源期刊 ◇ CSCD-C ◇ 卓越:重点期刊

机构: [1]Department of Medical Oncology, Cancer Hospital, Chinese Academy of Medical Sciences, Beijing 100021, China [2]Department of Pulmonary Medicine, Second Affiliated Hospital of Fujian Medical University, Quanzhou 362100, China [3]Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu 610041, China [4]Department of Respiratory Medicine, Daping Hospital, Chongqing 400042, China [5]Department of Respiratory Medicine, Xinqiao Hospital, Army Medical University, Chongqing 400037, China [6]Department of Medical Oncology, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer,Key Laboratory of Cancer Prevention and Therapy, Tianjin,Tianjin's Clinical Research Center for Cancer , Tianjin 300060, China [7]Department of Thoracic Oncology, Tianjin Medical University General Hospital, Tianjin 300052, China [8]Department of Medical Oncology, Hunan Cancer Hospital, Changsha 410006, China [9]Department of Pathology, Xiangya Hospital, Central South University, Changsha 410008, China [10]Department of Respiratory Medicine, Xiangya Hospital, Central South University, Changsha 410008, China [11]Burning Rock Biotech, Guangzhou 510300, China [12]Department of Oncology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China
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关键词: Germline BRCA mutations non-small cell lung cancer prevalence BRCA1 BRCA2

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Objective: Germline alterations in the breast cancer susceptibility genes type 1 and 2, BRCA1 and BRCA2, predispose individuals to hereditary cancers, including breast, ovarian, prostate, pancreatic, and stomach cancers. Accumulating evidence suggests inherited genetic susceptibility to lung cancer. The present study aimed to survey the prevalence of pathogenic germline BRCA mutations (gBRCAm) and explore the potential association between gBRCAm and disease onset in Chinese advanced non-small cell lung cancer (NSCLC) patients. Methods: A total of 6,220 NSCLC patients were screened using capture-based ultra-deep targeted sequencing to identify patients harboring germline BRCA1/2 mutations. Results: Out of the 6,220 patients screened, 1.03% (64/6,220) of the patients harbored the pathogenic gBRCAm, with BRCA2 mutations being the most predominant mutations (49/64, 76.5%). Patients who developed NSCLC before 50 years of age were more likely to carry gBRCAm (P = 0.036). Among the patients harboring classic lung cancer driver mutations, those with concurrent gBRCAm were significantly younger than those harboring the wild-type gBRCA (P = 0.029). By contrast, the age of patients with or without concurrent gBRCAm was comparable to those of patients without the driver mutations (P = 0.972). In addition, we identified EGFR-mutant patients with concurrent gBRCAm who showed comparable progression-free survival but significantly longer overall survival (P = 0.002) compared to EGFR-mutant patients with wild-type germline BRCA. Conclusions: Overall, our study is the largest survey of the prevalence of pathogenic gBRCAm in advanced Chinese NSCLC patients. Results suggested a lack of association between germline BRCA status and treatment outcome of EGFR-TKI. In addition, results showed a positive correlation between pathogenic gBRCAm and an early onset of NSCLC.

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出版当年[2020]版:
大类 | 1 区 医学
小类 | 1 区 医学:研究与实验 2 区 肿瘤学
最新[2023]版:
大类 | 2 区 医学
小类 | 3 区 医学:研究与实验 3 区 肿瘤学
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Q2 MEDICINE, RESEARCH & EXPERIMENTAL Q2 ONCOLOGY
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Q1 MEDICINE, RESEARCH & EXPERIMENTAL Q1 ONCOLOGY

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第一作者机构: [1]Department of Medical Oncology, Cancer Hospital, Chinese Academy of Medical Sciences, Beijing 100021, China
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