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Genetic syndromes and genetic tests in colorectal cancer.

机译:大肠癌的遗传综合征和基因检测。

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摘要

Our understanding of the biology of colon cancer has matured to the point that it is a useful general paradigm for understanding solid tumor development. Recent advances provide insight into the genetic alterations underlying the development of colon cancer. These insights provide unique opportunities for genetic testing in predisposed, asymptomatic patients that can direct screening efforts and their clinical management. This review examines several inherited colon cancer predispositions, well described clinically for a century, that are now amenable to genetic testing. Additional discussion focuses on colon cancer predisposition traits that occur with high frequency but low penetrance characteristics. Finally, genetic tests for tumor markers that potentially have prognostic or therapeutic implications are reviewed.
机译:我们对结肠癌生物学的理解已经成熟到一定程度,它是理解实体瘤发展的有用的一般范例。最近的进展提供了对结肠癌发展潜在的遗传改变的见解。这些见解为易感,无症状的患者提供了独特的基因检测机会,可以指导筛查工作及其临床管理。这项审查审查了几个继承的结肠癌的倾向,在临床上已经有一个世纪的描述,现在可以接受基因检测。额外的讨论集中在以高频率但低渗透率特征出现的结肠癌易感特征。最后,综述了对可能具有预后或治疗意义的肿瘤标志物的基因检测。

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