中国现代医生2024,Vol.62Issue(9) :1-6,21.DOI:10.3969/j.issn.1673-9701.2024.09.001

基于生物信息学分析FAM83H-AS1在乳腺癌中的表达及临床意义

Expression and clinical significance of FAM83H-AS1 in breast cancer based on bioinformatics analysis

李娜 袁军 张安志 胡楚玲 徐茂义
中国现代医生2024,Vol.62Issue(9) :1-6,21.DOI:10.3969/j.issn.1673-9701.2024.09.001

基于生物信息学分析FAM83H-AS1在乳腺癌中的表达及临床意义

Expression and clinical significance of FAM83H-AS1 in breast cancer based on bioinformatics analysis

李娜 1袁军 1张安志 1胡楚玲 2徐茂义3
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作者信息

  • 1. 嘉兴市妇幼保健院 嘉兴大学附属妇儿医院病理科,浙江嘉兴 314051
  • 2. 嘉兴市妇幼保健院 嘉兴大学附属妇儿医院药剂科,浙江嘉兴 314051
  • 3. 嘉兴市第一医院 嘉兴大学附属医院肿瘤内科,浙江嘉兴 314001
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摘要

目的 通过生物信息学分析 FAM83H-AS1 在乳腺癌中的表达及其对临床治疗和预后评估的意义.方法 下载癌症基因组图谱(the Cancer Genome Atlas,TCGA)数据库中多种肿瘤表达资料,采用R语言分析FAM83H-AS1 在多种癌症中的表达情况.单独分析FAM83H-AS1 在乳腺癌中的表达情况,并通过基于基因表达水平值的交互式分析平台(Gene Expression Profiling Interactive Analysis,GEPIA)在线数据库验证表达情况.利用TCGA数据库下载并分析生存资料,明确FAM83H-AS1 表达水平与乳腺癌患者预后的关系,并利用GEPIA及Kaplan-Meier Plotter进行双重验证.同时利用TCGA临床信息分析FAM83H-AS1 与临床病理分期的关系,运用R语言分析FAM83H-AS1 与肿瘤微环境、免疫检测点相关基因及肿瘤突变负荷(tumor mutation burden,TMB)的相关性,并进行基因集富集分析(gene set enrichment analysis,GSEA).结果 FAM83H-AS1 在多种癌症中表达异常,其中在乳腺癌中的表达显著升高,且高表达FAM83H-AS1 的乳腺癌患者总生存率显著降低.此外,不同临床分期的乳腺癌患者 FAM83H-AS1 的表达水平不同.FAM83H-AS1 与乳腺癌样本中的基质细胞评分及免疫细胞评分均呈负相关,与一些免疫检测点相关基因表达具有相关性,TMB 雷达图结果提示FAM83H-AS1 在乳腺癌中的表达与TMB存在正相关性,GSEA结果提示FAM83H-AS1 的表达与错配修复功能呈正相关性.结论 FAM83H-AS1 基因在乳腺癌中高表达,与患者的不良预后、临床病理分期、肿瘤微环境及TMB均有相关性.同时 FAM83H-AS1 与免疫检测点相关的一些基因及错配修复基因存在相关性,以上可能为临床乳腺癌的治疗、预测预后及基因靶向药物的研制提供理论依据.

Abstract

Objective To analyze the expression and clinical treatment and prognosis assessment significance of FAM83H-AS1 in breast cancer by bioinformatics analysis.Methods The expression of FAM83H-AS1 in various cancer types was analyzed in the Cancer Genome Atlas(TCGA)database by R language.Additionally the expression in breast cancer was examined by Gene Expression Profiling Interactive Analysis(GEPIA)online database.Survival data were downloaded from TCGA to analyze the correlation between FAM83H-AS1 expression levels and prognosis among breast cancer patients.GEPIA and Kaplan-Meier Plotter were used for dual verification.Clinical information was obtained from TCGA for further analysis on the relationship between FAM83H-AS1 and clinical characteristics.And the relationship between FAM83H-AS1 and tumor microenvironment,immunodetection point-related genes and tumor mutation burden(TMB)was analyzed using R language.Gene set enrichment analysis(GSEA)was performed.Results The expression of FAM83H-AS1 was abnormal in many cancers,particularly exhibiting a significant increase in breast cancer.High expression of FAM83H-AS1 is associated with significantly reduced overall survival in breast cancer patients.Furthermore,the expression level of FAM83H-AS1 varies among breast cancer patients with different clinical stages.FAM83H-AS1 exhibits negative correlation with stromal cell score and immune cell score in breast cancer samples,and correlated with immune detection point-related gene.TMB radar map results suggest that the expression of FAM83H-AS1 in breast cancer is positively correlated with tumor mutational burden.GSEA revealed a positive correlation between the expression of FAM83H-AS1 and the function of mismatch repair.Conclusion FAM83H-AS1 is highly expressed in breast cancer,and is related to poor prognosis.Its expression correlates with clinicopathological stage,tumor microenvironment and TMB of breast cancer patients.Furthermore,FAM83H-AS1 exhibits associations with certain immune checkpoint-related genes and mismatch repair genes.These findings provide a important theoretical basis for clinical treatment,prognosis prediction and development of gene-target drugs.

关键词

FAM83H-AS1/乳腺癌/免疫检测点/肿瘤微环境/肿瘤突变负荷

Key words

FAM83H-AS1/Breast cancer/Immune checkpoint/Tumor microenvironment/Tumor mutation burden

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基金项目

浙江省医药卫生科技计划(2023RC100)

浙江省嘉兴市科技计划(2019AD32255)

出版年

2024
中国现代医生
中国医学科学院

中国现代医生

影响因子:1.571
ISSN:1673-9701
参考文献量18
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