Molecular pathways in colorectal cancer
Molecular pathways in colorectal cancer
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DOI：
10.1111/j.1440-1746.2012.07200.x
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发表时间：
2012-09-01
影响因子：
4.1
通讯作者：
Warusavitarne, Janindra
中科院分区：
文献类型：
--
作者：
Al-Sohaily, Sam;Biankin, Andrew;Warusavitarne, Janindra
结直肠癌(CRC)是第二种最常见的新诊断癌症，在澳大利亚与癌症相关的死亡人数中排名第二，在世界范围内排名第三，在亚洲的重要性日益上升。它是通过遗传遗传倾向和环境因素的累积效应而产生的。基因组不稳定性是正常结肠或直肠粘膜癌变过程中不可或缺的一部分。目前已鉴定出三条分子途径：染色体不稳定性(CIN)、微卫星不稳定性(MSI)和CpG岛甲基化表型(CIMP)途径。这些途径并不是相互排斥的，有些肿瘤表现出多个途径的特征。生殖系突变是遗传性CRC综合征(占所有CRC的不到5%)的原因，而基因和表观遗传学改变的逐步积累导致零星的CRC。本文就遗传性结直肠癌的遗传学基础及参与结直肠癌发生过程的不同途径作一综述。
Colorectal cancer (CRC) is the second most common newly diagnosed cancer and accounts for the second highest number of cancer related deaths in Australia, the third worldwide and of increasing importance in Asia. It arises through cumulative effects of inherited genetic predispositions and environmental factors. Genomic instability is an integral part in the transformation of normal colonic or rectal mucosa into carcinoma. Three molecular pathways have been identified: these are the chromosomal instability (CIN), the microsatellite instability (MSI), and the CpG Island Methylator Phenotype (CIMP) pathways. These pathways are not mutually exclusive, with some tumors exhibiting features of multiple pathways. Germline mutations are responsible for hereditary CRC syndromes (accounting for less than 5% of all CRC) while a stepwise accumulation of genetic and epigenetic alterations results in sporadic CRC. This review aims to discuss the genetic basis of hereditary CRC and the different pathways involved in the process of colorectal carcinogenesis.