在中国宫颈鳞状细胞癌队列中识别宫颈癌免疫疗法的综合基因组篡改和潜在新抗原

Meng Wu, Jia Lu Zhou, Zhe Zhang, Yuan Guang Meng
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引用次数: 0

摘要

目的在一批中国宫颈鳞状细胞癌(CSCC)患者中发现基因组改变和宫颈癌免疫治疗的潜在新抗原:方法:采用全外显子组测序来鉴定基因组改变和CSCC免疫治疗的潜在新抗原。结果:系统的生物信息学分析表明,CSCC免疫治疗的基因组改变和潜在的新抗原:结果:系统生物信息学分析表明,C>T/G>A转换/反转在CSCC中占主导地位。错义突变是编码序列区最常见的体细胞突变类型。突变特征分析在 CSCC 样本中发现了特征 2、特征 6 和特征 7。PIK3CA、FBXW7和BICRA被确定为潜在的驱动基因,其中BICRA是新报道的基因。基因组变异分析确定了4960个潜在的新抗原,其中114个被列入两个新抗原相关数据库:本研究结果有助于我们了解 CSCC 的基因组特征,并为开发 CSCC 个体化免疫疗法的新生物技术方法奠定了基础。
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Identifying Comprehensive Genomic Alterations and Potential Neoantigens for Cervical Cancer Immunotherapy in a Cohort of Chinese Squamous Cell Carcinoma of the Cervix.

Objective: Genomic alterations and potential neoantigens for cervical cancer immunotherapy were identified in a cohort of Chinese patients with cervical squamous cell carcinoma (CSCC).

Methods: Whole-exome sequencing was used to identify genomic alterations and potential neoantigens for CSCC immunotherapy. RNA Sequencing was performed to analyze neoantigen expression.

Results: Systematic bioinformatics analysis showed that C>T/G>A transitions/transversions were dominant in CSCCs. Missense mutations were the most frequent types of somatic mutation in the coding sequence regions. Mutational signature analysis detected signature 2, signature 6, and signature 7 in CSCC samples. PIK3CA, FBXW7, and BICRA were identified as potential driver genes, with BICRA as a newly reported gene. Genomic variation profiling identified 4,960 potential neoantigens, of which 114 were listed in two neoantigen-related databases.

Conclusion: The present findings contribute to our understanding of the genomic characteristics of CSCC and provide a foundation for the development of new biotechnology methods for individualized immunotherapy in CSCC.

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