7、Mutational landscape of metastatic cancer ...
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Indel counts were typically tenfold lower than SNVs, with a lower relative rate for skin and lung cancers.
插入和缺失的数量通常比单核苷酸变异低十倍，而皮肤癌和肺癌的比例相对更低。
Genome-wide analysis of indels at microsatellite loci identified 60 samples with microsatellite instability (MSI), which represents 2.5% of all tumours.
对微卫星位点的插入缺失情况进行全基因组分析，确定了60个微卫星不稳定的样本，占所有肿瘤的2.5%。
（微卫星：基因组中的一类短串联重复DNA序列。
微卫星不稳定性：与正常组织相比，肿瘤中某个微卫星位点由于重复单元的插入或缺失而出现新的微卫星等位基因的现象。由于肿瘤组织的DNA错配修复出现功能性缺陷导致。伴随着DNA错配修复缺陷的MSI现象是临床上一项重要的肿瘤标志物。）
Notably, 67% of all indels in the entire cohort were found in the 60 MSI samples, and 85% of all indels in the cohort were found in microsatellites or short tandem repeats.
值得注意的是，在60个微卫星不稳定的样本中发现了整个队列中67%的插入缺失，而85%的同队列插入缺失是在微卫星或短串联重复中发现的。
The highest rates of MSI were observed in central nervous system, uterine and prostate tumours.
在中枢神经系统、子宫和前列腺肿瘤中观察到的微卫星不稳定几率最高。
For metastatic colorectal cancer lesions, we found an MSI frequency of only 4.0%, which is lower than that reported for primary colorectal cancer, and in line with better prognosis for patients with localized MSI colorectal cancer, which metastasizes less often.
对于转移性结直肠癌病变，我们发现微卫星不稳定频率仅为4.0%，低于原发性结直肠癌的记录，并且符合局部微卫星不稳定的结直肠癌患者预后更好的情况，他们转移频率较低。
The median rate of SVs across the cohort was 193 per tumour, with the highest median counts observed in ovarian and oesophageal tumours, and the lowest in kidney tumours and NETs (Neuroendocrine tumors).
队列中各组结构变异的中位数为每个肿瘤193个，卵巢和食道肿瘤观察到的中位数数量最高，肾肿瘤和神经内分泌肿瘤最低。
Simple deletions were the most commonly observed subtype of SV, and were the most prevalent in every cancer type except stomach and oesophageal tumours, which were highly enriched in translocations.
纯缺失是结构变异中最常观察到的亚型，是除去常常出现易位（染色体片段位置改变）情况的胃癌和食道肿瘤外，所有癌症类型中最为普遍的（结构变异）。
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第7章 Mutational landscape of metastatic cancer
