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Tumor Mutational Burden and Genomic Alterations in Chinese Small Cell Lung Cancer Measured by Whole-Exome Sequencing
المؤلفون المشاركون
Su, Shan
Zou, Jian-Jun
Zeng, Yun-Yun
Cen, Wen-Chang
Zhou, Wei
Liu, Yan
Su, Duo-Hua
Zhang, Xian-Lan
Huang, Hui-Yi
Lei, An
Huang, Zhi-Hao
Jin, Yun
Li, Lei
Su, Ning
Xie, Ya-Lin
Zhao, Zhen-Gang
Liu, Jian-Xiong
المصدر
العدد
المجلد 2019، العدد 2019 (31 ديسمبر/كانون الأول 2019)، ص ص. 1-8، 8ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2019-11-06
دولة النشر
مصر
عدد الصفحات
8
التخصصات الرئيسية
الملخص EN
Purpose.
Studies on genetic alterations of the heterogenous small cell lung cancer (SCLC) are rare.
We carried out the present study to clarify the genomic alterations and TMB levels of Chinese SCLC patients by whole-exome sequencing.
Materials and Methods.
Whole-exome sequencing by next-generation sequencing technique was implemented on twenty SCLC samples.
Significant somatic mutations and copy number variations were screened, followed by comparison with the data extracted from COSMIC.
Besides, altered signaling pathways were examined in order to figure out actionable targets.
Results.
A total of 8,062 nonsynonymous mutations were defined.
The number of mutations for each case ranged from 98 to 864.
As for base substitutions, a total of 15,817 substitutions were detected with C > A conversion which was correlated to smoking occupying 25.57%.
The TMB values ranged from 2.51/Mb to 22.1/Mb with a median value of 9.95/Mb.
RB1 was the most frequently mutated gene altered in 18 (90%) cases, followed by TP53 altered in 17 (85%) cases.
Other commonly changed genes were PTEN, and RBL1, with frequencies of 55% and 50%, respectively.
SOX2 significantly amplified in 6 (30%) cases and MYCN amplified in 1 (5%) patient.
Notch signaling pathway and PI3K/AKT/mTOR signaling pathway were universally and significantly changed.
Major genomic alterations were in consistency with data from COSMIC, but frequencies of less common mutations were different.
Conclusion.
TP53 and RB1 inactivations were universally detected in SCLC.
The Notch and PI3K/AKT/mTOR signaling pathways were both significantly altered, implying potential actionable targets.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Su, Shan& Zou, Jian-Jun& Zeng, Yun-Yun& Cen, Wen-Chang& Zhou, Wei& Liu, Yan…[et al.]. 2019. Tumor Mutational Burden and Genomic Alterations in Chinese Small Cell Lung Cancer Measured by Whole-Exome Sequencing. BioMed Research International،Vol. 2019, no. 2019, pp.1-8.
https://search.emarefa.net/detail/BIM-1126469
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Su, Shan…[et al.]. Tumor Mutational Burden and Genomic Alterations in Chinese Small Cell Lung Cancer Measured by Whole-Exome Sequencing. BioMed Research International No. 2019 (2019), pp.1-8.
https://search.emarefa.net/detail/BIM-1126469
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Su, Shan& Zou, Jian-Jun& Zeng, Yun-Yun& Cen, Wen-Chang& Zhou, Wei& Liu, Yan…[et al.]. Tumor Mutational Burden and Genomic Alterations in Chinese Small Cell Lung Cancer Measured by Whole-Exome Sequencing. BioMed Research International. 2019. Vol. 2019, no. 2019, pp.1-8.
https://search.emarefa.net/detail/BIM-1126469
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1126469
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر
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