Abstract：
The genome of a cell is continuously battered by a plethora of exogenous and endogenous processes that can lead to damaged DNA. Repair mechanisms correct this damage most of the time, but failure to do so leaves mutations. Mutations do not occur in random manner, but rather typically follow a more or less specific pattern due to known or imputed mutational processes. Mutational signature analysis is the process by which the predominant mutational process can be inferred for a cancer and can be used in several contexts to study both the genesis of cancer and its response to therapy. Recent pan-cancer genomic efforts such as \"The Cancer Genome Atlas\" have identified numerous mutational signatures that can be categorized into single base substitutions, doublet base substitutions, or small insertions/deletions. Understanding these mutational signatures as they occur in non-small lung cancer could improve efforts at prevention, predict treatment response to personalized treatments, and guide the development of therapies targeting tumor evolution. For non-small cell lung cancer, several mutational signatures have been identified that correlate with exposures such as tobacco smoking and radon and can also reflect endogenous processes such as aging, APOBEC activity, and loss of mismatch repair. Herein, we provide an overview of the current knowledge of mutational signatures in non-small lung cancer.
摘要：
细胞的基因组不断受到过多的外源和内源过程的打击，这些过程可能导致DNA受损。修复机制大部分时间纠正这种损坏，但如果不这样做就会导致突变。突变不会以随机方式发生，而是通常由于已知或估算的突变过程而遵循或多或少的特定模式。突变特征分析是可以推断癌症的主要突变过程的过程，并且可以在多种情况下用于研究癌症的起源及其对治疗的反应。最近的泛癌症基因组研究，如“癌症基因组图谱”已经确定了许多突变特征，可以归类为单碱基取代，双碱基替换，或小的插入/删除。了解这些在非小细胞肺癌中发生的突变特征可以改善预防工作。预测对个性化治疗的治疗反应，并指导靶向肿瘤进化的治疗方法的发展。对于非小细胞肺癌，一些突变特征已被确定，与暴露相关，如吸烟和氡，也可以反映内源性过程，如老化，APOBEC活动，和失配修复的损失。在这里，我们概述了非小细胞肺癌突变特征的现有知识.
