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发现早期结直肠病变的突变谱:一项转化医学影响。

Discovering the Mutational Profile of Early Colorectal Lesions: A Translational Impact.

作者信息

Alquati Chiara, Prossomariti Anna, Piazzi Giulia, Buttitta Francesco, Bazzoli Franco, Laghi Luigi, Ricciardiello Luigi

机构信息

Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy.

Center for Applied Biomedical Research (CRBA), University of Bologna, 40138 Bologna, Italy.

出版信息

Cancers (Basel). 2021 Apr 25;13(9):2081. doi: 10.3390/cancers13092081.

Abstract

Colorectal cancer (CRC) develops through a multi-step process characterized by the acquisition of multiple somatic mutations in oncogenes and tumor-suppressor genes, epigenetic alterations and genomic instability. These events lead to the progression from precancerous lesions to advanced carcinomas. This process requires several years in a sporadic setting, while occurring at an early age and or faster in patients affected by hereditary CRC-predisposing syndromes. Since advanced CRC is largely untreatable or unresponsive to standard or targeted therapies, the endoscopic treatment of colonic lesions remains the most efficient CRC-preventive strategy. In this review, we discuss recent studies that have assessed the genetic alterations in early colorectal lesions in both hereditary and sporadic settings. Establishing the genetic profile of early colorectal lesions is a critical goal in the development of risk-based preventive strategies.

摘要

结直肠癌(CRC)通过一个多步骤过程发展,其特征是癌基因和肿瘤抑制基因中获得多个体细胞突变、表观遗传改变和基因组不稳定。这些事件导致从癌前病变进展为晚期癌。在散发性情况下,这个过程需要数年时间,而在受遗传性CRC易感综合征影响的患者中,发病年龄较早且进展更快。由于晚期CRC在很大程度上无法治疗或对标准或靶向治疗无反应,因此结肠病变的内镜治疗仍然是最有效的CRC预防策略。在本综述中,我们讨论了最近评估遗传性和散发性情况下早期结直肠病变基因改变的研究。建立早期结直肠病变的基因图谱是基于风险的预防策略发展中的一个关键目标。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/64ba/8123354/a477406d5015/cancers-13-02081-g001.jpg

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