长条间质核元素-1（LINE-1或L1）在人类基因组中占17％。作为唯一的自主和活性逆转录子，L1可能以某种方式参与癌症的发生和进展。关于L1在癌症中的研究主要集中在L1插入到新的基因组位点上的影响上。L1的5´非翻译区（UTR）还包含反义启动子（ASP）活性，生成L1-基因嵌合转录本到相邻外显子。已报道一些这些与ASP相关的基因在癌症中过表达，并促进癌细胞生长。然而，我们对L1 ASP相关基因的整体表达模式和在人类癌症中的作用了解甚少。L1 ASP相关基因在癌症中频繁失调，并与细胞周期、PI3K/AKT信号通路和GTP酶信号通路相关。L1 ASP相关基因的表达与肿瘤患者预后相关。中心L1 ASP相关基因CENPU和MCM2与免疫浸润、临床T分期和癌症干细胞相关。敲除L1 ASP相关基因LINC00491导致肿瘤生长和迁移能力明显降低。L1 ASP相关基因的表达在全癌水平上显着失调，这与肿瘤微环境、转化和患者预后密切相关。中心基因CENPU和MCM2有望成为新的肿瘤诊断标记和治疗靶点。© 2023. BioMed Central Ltd.，Springer Nature的一部分。

Long interspersed nuclear element-1 (LINE-1 or L1) comprises 17% of the human genome. As the only autonomous and active retrotransposons, L1 may take part in cancer initiation and progression in some ways. The studies of L1 in cancer mainly focus on the impact of L1 insertion into the new genome locus. The L1 5´ untranslated region (UTR) also contains antisense promoter (ASP) activity, generating L1-gene chimeric transcripts to a neighbor exon. Some of these ASP-associated genes have been reported to be overexpressed in cancer and promote cancer cell growth. However, little is known about overall expression patterns and the roles of L1 ASP-associated genes in human cancers.L1 ASP-associated genes were frequently dysregulated in cancer and associated with the cell cycle, the PI3K/AKT pathway, and the GTPase signaling pathway. The expression of L1 ASP-associated genes was correlated with tumor patient prognosis. Hub L1 ASP-associated genes CENPU and MCM2 showed a correlation with immune infiltration, clinical T stage, and cancer stemness in pan-cancer. Knockdown of L1 ASP-associated gene LINC00491 resulted in a significant decrease in tumor growth and migration ability.The expression of L1 ASP-associated genes is significantly dysregulated at the pan-cancer level, which is closely related to the tumor microenvironment, progression, and patient prognosis. Hub genes CENPU and MCM2 are expected to be new tumor diagnostic markers and therapeutic targets.© 2023. BioMed Central Ltd., part of Springer Nature.