Molecular Biomarkers in Colorectal Cancer in the Era of Precision Medicine: A Review

Alfredo Colombo, Vittorio Gebbia, N. Borsellino, Concetta Maria Porretto
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Abstract

Colorectal cancer (CRC) is a primary cause of death among cancer patients. This heterogeneous disease is characterized by alterations in many molecular pathways during its development. Mutations in RAS, combined with the mismatch repair gene defect are currently widely studied in clinics. Such biomarkers provide information for patient risk classification and for the selecting of the appropriate therapy alternatives. Nevertheless, likely, and robust prognostic markers that can identify “high-risk” CRC patients, who can benefit from adjuvant chemotherapy, in early stages, are currently absent. To solve this gap, genomic information has lately gained interest as a potential technique for estimating the likelihood of recurrence. However, due to several limitations of gene-based signatures, these have not yet been realistically used. In this review, we summarise the multiple molecular markers in clinical use for CRC, highlight potential indicators that might become indispensable over the next years, discuss recently discovered gene expression-based assays and emphasise the difficulties in biomarker development.
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精准医疗时代的结直肠癌分子生物标记物:综述
结直肠癌(CRC)是癌症患者的主要死因。这种异质性疾病的特点是在发病过程中许多分子通路都发生了改变。RAS 基因突变与错配修复基因缺陷相结合,是目前临床上广泛研究的对象。这些生物标志物为患者的风险分类和选择适当的替代疗法提供了信息。然而,目前还没有可靠的预后标志物可以识别出 "高风险 "的 CRC 患者,使他们在早期阶段就能从辅助化疗中获益。为了弥补这一缺陷,基因组信息作为一种估算复发可能性的潜在技术最近受到了关注。然而,由于基于基因的特征存在一些局限性,这些特征尚未得到实际应用。在这篇综述中,我们总结了临床上用于治疗 CRC 的多种分子标记物,强调了未来几年可能成为不可或缺的潜在指标,讨论了最近发现的基于基因表达的检测方法,并强调了生物标记物开发中的困难。
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