The somatic mutation spectrum imprinted in the genome of a tumor represents the mutational processes that have been active in that tumor. Large sequencing efforts in various cancer types have resulted in the identification of multiple mutational signatures, of which several have been linked to specific biological mechanisms. Several pan-cancer mutational signatures have been identified, while other signatures are only found in specific tissue types. Research on tumors from individuals with specific DNA repair defects has led to links between specific mutational signatures and mutational processes. Studying mutational signatures in cancers that are likely the result of a genetic predisposition may represent an interesting strategy to identify constitutional DNA repair defects, including those underlying polyposis and colorectal cancer.

印在肿瘤基因组中的体细胞突变谱代表了在该肿瘤中活跃的突变过程。在各种癌症类型中的大量测序工作已导致鉴定出多种突变特征，其中一些已与特定的生物学机制相关。已经鉴定出几种全癌突变特征，而其他特征仅在特定的组织类型中发现。具有特定DNA修复缺陷的个体对肿瘤的研究已导致特定突变特征和突变过程之间的联系。研究可能是遗传易感性结果的癌症中的突变特征，可能是一种有趣的策略，可用于识别结构性DNA修复缺陷，包括那些潜在的息肉病和结肠直肠癌。