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首页> 美国卫生研究院文献>BMC Bioinformatics >Accurately estimating the length distributions of genomic micro-satellites by tumor purity deconvolution
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Accurately estimating the length distributions of genomic micro-satellites by tumor purity deconvolution

机译：通过肿瘤纯度反卷积准确估算基因组微卫星的长度分布

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摘要

Micro-satellites are repetitive DNA sequences that consist of specific oligonucleotide units [ , ], exposing intrinsic polymorphisms in terms of the length, which are often described as length distributions [ ]. A distinct event known as micro-satellite instability (MSI) refers to a pattern of hypermutation caused by defects in the mismatch repair system [ ], characterized by widespread length polymorphisms of micro-satellites repeats, as well as by elevated frequency of single-nucleotide variants (SNVs) [ , ]. MSI happens if the length distributions of the same micro-satellite region differ significantly between different tissue samples, such as a tumor sample and a normal sample, otherwise the micro-satellite stability (MSS) event exists. Up to 15% – 20% of sporadic cases of colorectal cancer exhibit MSI events [ , ], while 12% of advanced prostate cancer cases have MSI events [ ]. Some recent studies have surveyed the MSI landscape across a range of cancer types [ – ], and imply that these regions have important clinical implications for cancer diagnostics and patient prognosis [ , ]. For example, MSI positive colorectal tumors respond well to PD-1 blocade [ ]. Due to these clinical utility, the detection of MSI events has become increasingly important.
机译：微卫星是重复的DNA序列，由特定的寡核苷酸单元[]组成，在长度方面暴露出固有的多态性，通常将其描述为长度分布[]。称为微卫星不稳定性（MSI）的独特事件是指由错配修复系统中的缺陷引起的超变模式[]，其特征在于微卫星重复序列的广泛长度多态性以及单核苷酸的频率升高变体（SNV）[，]。如果相同的微卫星区域的长度分布在不同的组织样本（例如肿瘤样本和正常样本）之间存在显着差异，则发生MSI，否则将存在微卫星稳定性（MSS）事件。高达15％– 20％的散发性大肠癌病例表现出MSI事件[]，而12％的晚期前列腺癌病例则表现出MSI事件[]。最近的一些研究调查了多种癌症类型[–]的MSI格局，并暗示这些区域对于癌症诊断和患者预后具有重要的临床意义[]。例如，MSI阳性结直肠肿瘤对PD-1血流反应良好。由于这些临床实用性，MSI事件的检测变得越来越重要。

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