《英文文献/摘要翻译》站在时间尽头2012

21、Driver mutation catalogue

　　Predictions of pathogenic variant overlap with known biology—for example, clustering of benign missense variants in the 3′ half of the APC gene—fits with the absence of FAP (familial adenomatous polyposis，译者注)-causing germline variants in this part of the gene.
　　对致病变异的预测与已知生物学内容重叠——例如，APC基因3’端的良性错义突变集群——与这部分基因中缺乏【导致家族性腺瘤□□肉病的】种系变异相吻合。

　　（错义突变：编码某种氨基酸的密码子经碱基替换以后，变成编码另一种氨基酸的密码子，从而使多肽链的氨基酸种类和序列发生改变。）

　　Overall, the catalogue is similar to previous inventories of cancer drivers, with TP53, CDKN2A, PIK3CA, APC, KRAS, PTEN and TERT identified as the most com-monly mutated genes, which together make up 26% of all the candidate driver mutations in the catalogue.
　　总体而言，该一览表与之前的癌症驱动详细目录相似，TP53，CDKN2A，PIK3CA，APC，KRAS，PTEN和TERT被鉴定是最常见的突变基因，共占一览表中所有候选驱动突变的26%。

　　However, all of the ten most frequently mutated genes in our catalogue were reported at a higher rate than for primary cancers, which may reflect the more advanced disease state.
　　然而，我们的一览表中最常见的10个突变基因的报告率均高于原发癌，这可能反映了更晚期的病情。

　　AR and ESR1 in particular are more prevalent, with putative driver mutations in 44% of prostate and 16% of breast cancers, respectively.
　　特别是AR和ESR1更加普遍，分别44%的前列腺癌和16 %的乳腺癌中有假定的驱动突变。

　　Both genes are linked to resistance to hormonal therapy, a common treatment for these tumour types, and have been previously reported as enriched in advanced metastatic cancer but are identified at higher rates in this study.
　　这两个基因都与激素治疗——这些肿瘤类型的一种常见治疗方法——的抵抗有关，（这两个基因）以前曾被报告过在晚期转移癌中较富集，但在本研究中被鉴定出的比率更高了。

　　At the per-patient level, the mean number of total candidate driver events per patient was 5.7, with the highest rate in urinary tract tumours (mean value of 8.0) and the lowest in NETs (mean of 2.8).
　　在单个患者的层面，每个患者体内候选驱动总数的平均值是5.7，尿路肿瘤中的比率最高（平均值为8.0），神经内分泌肿瘤的最低（平均值为2.8）。

　　Oesopha-geal and stomach tumours also had increased driver counts, largely owing to a much higher rate of deletions in common fragile site genes compared with other cancer types.
　　食道和胃部肿瘤的驱动数量也有所增加，很大程度上是因为与其他类型的癌症相比，常见脆性位点基因的缺失率要高得多。

　　Fragile sites aside, the differential rates of drivers between cancer types in each variant class do correlate with the relative mutational load, with the exception of skin cancers, which have a lower than expected number of SNV drivers.
　　撇开脆性位点，每个变异类别中，不同癌症类型的驱动的不同比率，与相对突变负荷有关联，除了皮肤癌，它的单核苷酸驱动数量低于预期。