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早发性结直肠癌遗传和表观遗传发病机制的分子研究方法

Molecular approach to genetic and epigenetic pathogenesis of early-onset colorectal cancer.

作者信息

Tezcan Gulcin, Tunca Berrin, Ak Secil, Cecener Gulsah, Egeli Unal

机构信息

Gulcin Tezcan, Berrin Tunca, Secil Ak, Gulsah Cecener, Unal Egeli, Department of Medical Biology, Faculty of Medicine, Uludag University, 16059 Bursa, Turkey.

出版信息

World J Gastrointest Oncol. 2016 Jan 15;8(1):83-98. doi: 10.4251/wjgo.v8.i1.83.

Abstract

Colorectal cancer (CRC) is the third most frequent cancer type and the incidence of this disease is increasing gradually per year in individuals younger than 50 years old. The current knowledge is that early-onset CRC (EOCRC) cases are heterogeneous population that includes both hereditary and sporadic forms of the CRC. Although EOCRC cases have some distinguishing clinical and pathological features than elder age CRC, the molecular mechanism underlying the EOCRC is poorly clarified. Given the significance of CRC in the world of medicine, the present review will focus on the recent knowledge in the molecular basis of genetic and epigenetic mechanism of the hereditary forms of EOCRC, which includes Lynch syndrome, Familial CRC type X, Familial adenomatous polyposis, MutYH-associated polyposis, Juvenile polyposis syndrome, Peutz-Jeghers Syndrome and sporadic forms of EOCRC. Recent findings about molecular genetics and epigenetic basis of EOCRC gave rise to new alternative therapy protocols. Although exact diagnosis of these cases still remains complicated, the present review paves way for better predictions and contributes to more accurate diagnostic and therapeutic strategies into clinical approach.

摘要

结直肠癌(CRC)是第三大常见癌症类型,在50岁以下人群中,该疾病的发病率逐年逐渐上升。目前的认识是,早发性结直肠癌(EOCRC)病例是一个异质性群体,包括遗传性和散发性形式的结直肠癌。尽管EOCRC病例比老年结直肠癌具有一些独特的临床和病理特征,但EOCRC潜在的分子机制仍不清楚。鉴于结直肠癌在医学领域的重要性,本综述将聚焦于遗传性EOCRC的遗传和表观遗传机制分子基础的最新知识,其中包括林奇综合征、X型家族性结直肠癌、家族性腺瘤性息肉病、MutYH相关息肉病、幼年息肉病综合征、黑斑息肉综合征以及散发性EOCRC。关于EOCRC分子遗传学和表观遗传基础的最新发现催生了新的替代治疗方案。尽管对这些病例的准确诊断仍然复杂,但本综述为更好的预测铺平了道路,并有助于在临床方法中制定更准确的诊断和治疗策略。

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