Prevalence and clinical significance of pathogenic germline BRCA1/2 mutations in Chinese non-small cell lung cancer patients

Xingsheng Hu; Dongyong Yang; Yalun Li; Li Li; Yan Wang; Peng Chen; Song Xu; Xingxiang Pu; Wei Zhu; Pengbo Deng; Junyi Ye; Hanhan Zhang; Analyn Lizaso; Hao Liu; Xinru Mao; Hai Huang; Qian Chu; Chengping Hu

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Prevalence and clinical significance of pathogenic germline BRCA1/2 mutations in Chinese non-small cell lung cancer patients

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cqvip: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 gB RCAm, 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 gB RCAm and an early onset of NSCLC.

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《癌症生物学与医学：英文版》 |2019年第3期|P.556-564|共9页
作者
Xingsheng Hu; Dongyong Yang; Yalun Li; Li Li; Yan Wang; Peng Chen; Song Xu; Xingxiang Pu; Wei Zhu; Pengbo Deng; Junyi Ye; Hanhan Zhang; Analyn Lizaso; Hao Liu; Xinru Mao; Hai Huang; Qian Chu; Chengping Hu;
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[1]Department of Medical Oncology Cancer Hospital Chinese Academy of Medical Sciences Beijing100021 China;

[2]Department of Pulmonary Medicine Second Affiliated Hospital of Fujian Medical University Quanzhou362100 China;

[3]Department of Respiratory Medicine West China Hospital Sichuan University Chengdu610041 China;

[4]Department ofRespiratory Medicine Daping Hospital Chongqing400042 China;

[5]Department of Respiratory Medicine Xinqiao Hospital Army Medical University Chongqing400037 China;

[6]Department of Medical Oncology Tianjin Medical University CancerInstitute and Hospital National Clinical Research Center for Cancer;

[7]Key Laboratory of Cancer Prevention and Therapy Tianjin;

[7]Department of Thoracic Oncology TianjinMedical University General Hospital Tianjin300052 China;

[8]Tianjin''''s Clinical Research Center for Cancer Tianjin300060 China;

[8]Department of Medical Oncology Hunan Cancer Hospital Changsha410006 China;

[9]Department of Pathology Xiangya Hospital Central South University Changsha410008 China;

[10]Department of Respiratory Medicine Xiangya Hospital Central South University Changsha410008 China;

[11]Burning RockBiotech Guangzhou510300 China;

[12]Department of Oncology Tongji Hospital of Tongji Medical College HuazhongUniversity of Science and Technology Wuhan430022 China;

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正文语种 chi
中图分类肺肿瘤;
关键词
Germline BRCA mutations; non-small cell lung cancer; prevalence; BRCA1; BRCA2;

机译：种系BRCA突变;非小细胞肺癌;患病率BRCA1;BRCA2;

Prevalence and clinical significance of pathogenic germline BRCA1/2 mutations in Chinese non-small cell lung cancer patients

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