[关键词]
[摘要]
单细胞转录组学、基因组学、表观基因组学、多组学等单细胞测序(single cell sequencing,sc-Seq)技术是一种在单细胞水平上研究细胞基因表达和功能变化的强大研究工具。随着sc-Seq技术在食管癌研究中的广泛应用,其将改变人们对食管癌细胞生物学特征的理解,为更精准地从分子层面阐述食管癌的发生、发展和转移的机制,提高其诊断及个体化治疗的水平做出重大贡献。本文就sc-Seq技术在食管癌的发生、发展机制、诊疗和预后相关标志物、免疫治疗及放化疗中的研究进展作一综述。
[Key word]
[Abstract]
Objective: To screen candidate epitopes of breast cancer HLA-A2 restrictive neoantigen and to identify high frequency mutation sites in breast cancer neoantigen by using bioinformatics method. Methods: NCBI and GDC databases were used to search missense mutation sites formed by single nucleotide mutation in breast cancer among reported literatures and sequencing data. The new antigen epitopes were predicted by HLA-A2 antigen epitope prediction website BIMAS, SYFPEITHI and artificial neural networkbased NetMHC4.0, and the epitopes with TAP binding power less than Intermediate were eliminated. The candidate epitopes were prioritized by mutation frequency and prediction results. Results: A total of 17 high-frequency mutation genes, including BTLA,ERBB2 and NBPF12 etc, were screened by the above-mentioned methods, and a total of 26 neoantigen epitopes were identified. The binding power of epitopes predicted using BIMAS and SYFPEITHI showed great difference (P<0.05), epitopes in high priority as GSTP1 (A114V, mutation frequency of 5.94%) and BRCA2 (N991H, mutation frequency of 5.40%) etc, were expected to be candidate neo-antigen epitopes; however, their mutation frequency was relatively too low to achieve“universal use”. The possibility of these epitopes used as general breast cancer neo-antigen epitopes is less likely. Conclusion: The common mutation frequency of breast cancer is lower than that of other tumors; it ’s difficult to find“universal”new antigen epitopes of breast cancer;the individualized neoantigen vaccine may be of more promise, which needs further research.
[中图分类号]
R730.5;R730.2;R-331
[基金项目]
河南省重点研发与推广专项资助(No. 202102310089);河南省中青年卫生健康科技创新人才项目(No. YXKC2021032)