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结直肠癌的分子分类:基因型与表型的关系。

Molecular classification of colorectal carcinomas: the genotype-to-phenotype relation.

机构信息

Elke Kaemmerer, Christina Klaus, Min Kyung Jeon, Nikolaus Gassler, Institute of Pathology, RWTH Aachen University, 52074 Aachen, Germany.

出版信息

World J Gastroenterol. 2013 Dec 7;19(45):8163-7. doi: 10.3748/wjg.v19.i45.8163.

Abstract

Colorectal carcinomas (CRCs) are frequently found in industrialized countries and lead to a high incidence of malignancy-related mortality. Defined by histomorphological features, CRCs and their pre-invasive lesions are quite heterogeneous. The underlying molecular mechanisms include genomic instability, genomic mutation of tumor suppressor genes or oncogenes, epigenetic changes, and the microRNA network. The molecular mechanisms are guided by repeated clonal selections. The genotype-to-phenotype relation is assumed to be the great challenge of cancer research and the development of effective targeted therapies. At present a strong genotype-to-phenotype relation is characterized only for a minority of CRCs. Consequently, the molecular characterization of CRCs is essential to interpret histological patterns and to identify prognostic groups as well as patients for targeted therapy.

摘要

结直肠癌(CRC)在工业化国家中较为常见,导致恶性肿瘤相关死亡率较高。CRC 及其癌前病变通过组织形态学特征来定义,具有高度异质性。其潜在的分子机制包括基因组不稳定性、抑癌基因或癌基因的基因组突变、表观遗传改变和 microRNA 网络。这些分子机制受到反复克隆选择的指导。基因型到表型的关系被认为是癌症研究和有效靶向治疗发展的巨大挑战。目前,只有少数 CRC 具有明确的基因型到表型关系。因此,CRC 的分子特征对于解释组织学模式以及确定预后分组和靶向治疗患者至关重要。

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