Department of Cancer Biology, Wake Forest University School of Medicine, Medical Center Blvd, Winston-Salem, NC 27157, United States.
Center for Cancer Genomics and Precision Oncology, Atrium Health Wake Forest Baptist Comprehensive Cancer Center, Medical Center Blvd, Winston-Salem, NC 27157, United States.
Brief Bioinform. 2024 Jul 25;25(5). doi: 10.1093/bib/bbae376.
3'UTR-APAs have been extensively studied, but intronic polyadenylations (IPAs) remain largely unexplored. We characterized the profiles of 22 260 IPAs in 9679 patient samples across 32 cancer types from the Cancer Genome Atlas cohort. By comparing tumor and paired normal tissues, we identified 180 ~ 4645 dysregulated IPAs in 132 ~ 2249 genes in each of 690 patient tumors from 22 cancer types that showed consistent patterns within individual cancer types. We selected 2741 genes that showed consistently patterns across cancer types, including 1834 pan-cancer tumor-enriched and 907 tumor-depleted IPA genes; the former were amply represented in the functional pathways such as deoxyribonucleic acid damage repair. Expression of IPA isoforms was associated with tumor mutation burden and patient characteristics (e.g. sex, race, cancer stages, and subtypes) in cancer-specific and feature-specific manners, and could be a more accurate prognostic marker than gene expression (summary of all isoforms). In summary, our study reveals the roles and the clinical relevance of tumor-associated IPAs.
3'UTR-APAs 已经得到了广泛的研究,但内含子多聚腺苷酸化 (IPAs) 仍然在很大程度上未被探索。我们对来自癌症基因组图谱队列的 32 种癌症类型的 9679 个患者样本中的 22260 个 IPA 进行了特征描述。通过比较肿瘤和配对的正常组织,我们在 690 个肿瘤患者的 22 种癌症类型中的 132-2249 个基因中,鉴定出 180-4645 个失调的 IPA。这些癌症类型中每个癌症类型内都存在一致的模式。我们选择了 2741 个在癌症类型间具有一致模式的基因,包括 1834 个泛癌症肿瘤富集和 907 个肿瘤耗竭的 IPA 基因;前者在脱氧核糖核酸损伤修复等功能途径中得到了充分的体现。IPA 异构体的表达与肿瘤突变负担和患者特征(如性别、种族、癌症分期和亚型)以癌症特异性和特征特异性的方式相关,并且可能比基因表达(所有异构体的总结)更能作为一个准确的预后标志物。总之,我们的研究揭示了肿瘤相关 IPA 的作用和临床相关性。