Prevalence and clinical significance of pathogenic germline BRCA1 2 mutations in Chinese non-small cell lung cancer patients
文献类型：期刊论文
| 作者 | Hu Xingsheng3; Yang Dongyong5; Li Yalun2; Li Li4; Wang Yan10; Chen Peng11; Xu Song6; Pu Xingxiang3; Zhu Wei7; Deng Pengbo8 |
| 刊名 | Cancer Biology & Medicine
 |
| 出版日期 | 2019 |
| 卷号 | 16 |
| 关键词 | SUSCEPTIBILITY LOCUS PROSTATE-CANCER OVARIAN-CANCER BREAST RISK MULTICENTER EXPRESSION INHIBITORS VARIANTS CARRIERS Germline BRCA mutations non-small cell lung cancer prevalence BRCA1 BRCA2 |
| ISSN号 | 2095-3941 |
| 其他题名 | Prevalence and clinical significance of pathogenic germline BRCA1 2 mutations in Chinese non-small cell lung cancer patients |
| 英文摘要 | 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 g BRCA m , with BRCA2 mutations being the most pr edominant mutations (49 g BRCA m ( P = 0.036). Among the patients harboring classic lung cancer driver mutations, those with concurrent g BRCA m were significantly younger than those harboring the wild-type g BRCA ( P = 0.029). By contrast, the age of patients with or without concurrent g BRCA m was comparable to those of patients without the driver mutations ( P = 0.972). In addition, we identified EGFR -mutant patients with concurrent g BRCAm 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 g BRCA m 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 g BRCA m and an early onset of NSCLC. |
| 资助项目 | [National Natural Science Foundation of China] |
| 语种 | 英语 |
| CSCD记录号 | CSCD:6579824 |
| 源URL | [http://ir.hfcas.ac.cn:8080/handle/334002/105624]  |
| 专题 | 中国科学院合肥物质科学研究院 |
| 作者单位 | 1.中国科学院南海海洋研究所 2.四川大学 3.中国科学院合肥物质科学研究院肿瘤医院 4.Daping Hosp, Department Resp Med, Chongqing 400042, Peoples R China 5.Fujian Med University, Affiliated Hosp 2, Dept Pulm Med, Quanzhou 362100, Fujian, Peoples R China 6.Tianjin Med University, Dept Thorac Oncol, Gen Hosp, Tianjin 300052, Peoples R China 7.中国科学院大连化学物理研究所 8.Cent S University, Xiangya Hosp, Dept Resp Med, Changsha 410008, Hunan, Peoples R China 9.中国科学院广州地球化学研究所 10.Army Med University, Xinqiao Hosp, Dept Resp Med, Chongqing 400037, Peoples R China |
| 推荐引用方式 GB/T 7714 | Hu Xingsheng,Yang Dongyong,Li Yalun,et al. Prevalence and clinical significance of pathogenic germline BRCA1 2 mutations in Chinese non-small cell lung cancer patients[J]. Cancer Biology & Medicine,2019,16. |
| APA | Hu Xingsheng.,Yang Dongyong.,Li Yalun.,Li Li.,Wang Yan.,...&Hu Chengping.(2019).Prevalence and clinical significance of pathogenic germline BRCA1 2 mutations in Chinese non-small cell lung cancer patients.Cancer Biology & Medicine,16. |
| MLA | Hu Xingsheng,et al."Prevalence and clinical significance of pathogenic germline BRCA1 2 mutations in Chinese non-small cell lung cancer patients".Cancer Biology & Medicine 16(2019). |
入库方式： OAI收割
来源：合肥物质科学研究院
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