Fang Jianfei, Yang Ying, Xie Lina, Yin Wenjuan
Department of Pathology, The Cancer Hospital of the University of Chinese Academy of Sciences (Zhejiang Cancer Hospital), Institute of Basic Medicine and Cancer(IBMC), Chinese Academy of Sciences, Hangzhou, Zhejiang 310022, China.
The Second Clinical Medical College, Zhejiang Chinese Medicine University, Hangzhou, Zhejiang 310053, China.
J Oncol. 2023 Feb 13;2023:1904309. doi: 10.1155/2023/1904309. eCollection 2023.
is a very common tumor suppressor gene and has implicated in various cancers. A systematic immunological analysis of somatic mutation classification in multiple cancers is still lacking.
To assess the immunological value of somatic mutation classification in various cancers, we integrated a series of bioinformatics methods to analyze the role of gene across the public databases, such as UCSC Xena, Cancer Cell Line Encyclopedia (CCLE), Ensembl, and Genotype-Tissue Expression (GTEx).
The results revealed that the expression level had significant difference in tumor tissues and normal tissues, and it had a high expression level in most malignant tumors. Moreover, the missense mutation is the most common type of mutation in most cancers. In addition, the Cox proportional hazards model analysis and Kaplan-Meier (KM) survival analysis demonstrated that the expression is a high-risk factor in brain lower-grade glioma (LGG), prostate adenocarcinoma (PRAD), and uterine carcinosarcoma (UCS), which is opposite in uterine corpus endometrial carcinoma (UCEC). Besides, compared to the nontruncating mutation classification samples, we found that truncating mutation samples had lower expression levels in certain types of cancer. Notably, was associated with the mismatch repair (MMR) gene in some cancers which contained truncating or nontruncating mutation. Based on the classification of truncating or nontruncating mutation, we also discovered that expression was positively or negatively correlated with the immune score, stromal score, and the levels of immune cell infiltration in different cancers.
Our research reveals an overarching landscape of immunological value on status in various malignant tumors. According to our results, we demonstrate that also plays an immunological role in various cancers.
是一种非常常见的肿瘤抑制基因，与多种癌症有关。目前仍缺乏对多种癌症中体细胞突变分类的系统免疫学分析。
为了评估各种癌症中体细胞突变分类的免疫学价值，我们整合了一系列生物信息学方法，以分析该基因在公共数据库（如UCSC Xena、癌细胞系百科全书（CCLE）、Ensembl和基因型-组织表达（GTEx））中的作用。
结果显示，该基因的表达水平在肿瘤组织和正常组织中有显著差异，且在大多数恶性肿瘤中表达水平较高。此外，错义突变是大多数癌症中最常见的突变类型。此外，Cox比例风险模型分析和Kaplan-Meier（KM）生存分析表明，该基因的表达是脑低级别胶质瘤（LGG）、前列腺腺癌（PRAD）和子宫癌肉瘤（UCS）的高危因素，而在子宫内膜癌（UCEC）中则相反。此外，与该基因非截断突变分类样本相比，我们发现在某些类型的癌症中，该基因截断突变样本的表达水平较低。值得注意的是，在一些含有截断或非截断突变的癌症中，该基因与错配修复（MMR）基因有关。基于截断或非截断突变的分类，我们还发现该基因的表达与不同癌症中的免疫评分、基质评分以及免疫细胞浸润水平呈正相关或负相关。
我们的研究揭示了各种恶性肿瘤中该基因状态的总体免疫学价值图景。根据我们的结果，我们证明该基因在各种癌症中也发挥着免疫学作用。
