Stadler Michael E, Patel Mihir R, Couch Marion E, Hayes David Neil
Department of Otolaryngology-Head & Neck Surgery, University of North Carolina at Chapel Hill, CB #7070, Chapel Hill, NC 27599, USA.
Hematol Oncol Clin North Am. 2008 Dec;22(6):1099-124, vii. doi: 10.1016/j.hoc.2008.08.007.
Patients present with a differential baseline risk of cancer based on normal and expected variations in genes associated with cancer. The baseline risk of developing cancer is acted on throughout life as the genome of different cells interacts with the environment in the form of exposures (eg, toxins, infections). As genetic damage is incurred throughout a lifetime (directly to DNA sequences or to the epigenome), events are set in motion to progressively disrupt normal cellular pathways toward tumorigenesis. This article attempts to characterize broad categories of genetic aberrations and pathways in a manner that might be useful for the clinician to understand the risk of developing cancer, the pathways that are disrupted, and the potential for molecular-based diagnostics.
基于与癌症相关基因的正常及预期变异，患者呈现出不同的癌症基线风险。随着不同细胞的基因组以暴露（如毒素、感染）的形式与环境相互作用，一生中患癌的基线风险都会受到影响。由于一生中会发生基因损伤（直接作用于DNA序列或表观基因组），一系列事件会随之启动，逐步破坏正常细胞向肿瘤发生发展的途径。本文试图以一种可能有助于临床医生理解患癌风险、被破坏的途径以及基于分子的诊断潜力的方式，对广泛的基因畸变和途径进行特征描述。
