微卫星不稳定性
结直肠癌
生物
癌症研究
基因
基因剂量
拷贝数变化
病态的
免疫组织化学
基因表达
癌症
微卫星
遗传学
病理
医学
基因组
等位基因
免疫学
作者
Jian Li,Youheng Wang,Jian Xu,Min Niu,Songlin Wan,Yi Liu,Zhao Ding,Guangchun Li,Qun Qian,Daojiang Li
标识
DOI:10.1177/15330338251333695
摘要
Introduction Copy number variation is a significant characteristic of colorectal cancer progression. RBFOX1 (A2BP1) is the gene with the highest frequency of copy number loss in colorectal cancer, but current research related to it and colorectal cancer is relatively scarce. Methods Data from TCGA and other sources were used to analyze the copy number variation and mRNA expression levels of RBFOX1, as well as their correlation with clinical pathological data. Immunohistochemistry and immunofluorescence experiments were used to analyze the expression of RBFOX1 protein in colorectal cancer cells and tissues. Results RBFOX1 has a high frequency (22.4%) of copy number loss and diverse copy number variations in colorectal cancer tissues. High-level RBFOX1 deletion is prone to occur in the right-sided colon and tissues with high microsatellite instability. The copy number variation of RBFOX1 and mRNA expression are not correlated. In tumor tissues, RBFOX1 mRNA shows a characteristic of reduced expression, which is significantly related to BRAF mutation (P = 4.7e-05, P = 0.03). Low expression of RBFOX1 is prone to occur in the right-sided colon and tissues with high microsatellite instability. The protein encoded by RBFOX1 is expressed in normal intestinal tissues, but shows a characteristic of absence in some colorectal cancer tissues. Conclusion In the right-sided colon and tissues with high microsatellite instability, RBFOX1 shows copy number loss and low mRNA expression. This characteristic is closely related to BRAF gene mutation, and the protein of RBFOX1 is absent in some colorectal cancer tissues.
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