Alternative splicing is commonly involved in carcinogenesis, being highly implicated in differential expression of cancer-related genes. Recent studies have shown that the human CEACAM19 gene is overexpressed in malignant breast and ovarian tumors, possessing significant biomarker attributes. In the present study, 3′ rapid amplification of cDNA ends (3′ RACE) and next-generation sequencing (NGS) were used for the detection and identification of novel CEACAM19 transcripts. Bioinformatical analysis of our NGS data revealed novel splice junctions between previously annotated exons and ultimately new exons. Next, fifteen novel CEACAM19 transcripts were identified with Sanger sequencing. Additionally, their expression profile was investigated in a wide panel of human cell lines, using nested PCR with variant-specific primers. The broad expression pattern of the CEACAM19 gene, along with the fact that its overexpression has previously been associated with ovarian and breast cancer progression, indicate the potential of novel CEACAM19 transcripts as putative diagnostic and/or prognostic biomarkers.

选择性剪接通常参与致癌作用，与癌症相关基因的差异表达密切相关。最近的研究表明，人类CEACAM19基因在恶性乳腺和卵巢肿瘤中过度表达，具有重要的生物标志物属性。在本研究中，cDNA 末端的 3' 快速扩增 (3' RACE) 和下一代测序 (NGS) 用于检测和鉴定新的CEACAM19转录本。我们的 NGS 数据的生物信息学分析揭示了先前注释的外显子和最终新的外显子之间的新剪接点。接下来，十五小说CEACAM19转录本通过 Sanger 测序鉴定。此外，使用带有变异特异性引物的巢式 PCR 在广泛的人类细胞系中研究了它们的表达谱。CEACAM19基因的广泛表达模式，以及其过表达以前与卵巢癌和乳腺癌进展相关的事实，表明新的CEACAM19转录本具有作为推定诊断和/或预后生物标志物的潜力。