《英文文献/摘要翻译》站在时间尽头2012

15、Significantly mutated genes

　　Analyses (Analysis 译者注) for significantly mutated genes using strict significance cut-off values reproduced previous results on cancer drivers, and identified a few novel genes that are potentially related to metastatic cancer.
　　对于显著突变基因的分析使用严格的截断值（临界值）再现了以前癌症驱动基因的结果，并确定了一些可能与转移癌症有关的新基因。

　　（临界值：被检分析物的量值。如肿瘤标志物系列里的一些免疫检验项目，被厂商或实验室赋予某个值，超出此值就属异常。）

　　In the pan-cancer analyses, we identified MLK4 —a mixed lineage kinase that regulates the JNK, P38 and ERK signalling pathways and has been reported to inhibit tumorigenesis in colorectal cancer.
　　在泛癌症分析中，我们确定了MLK4——一种混合谱系激酶，控制着JNK，P38和ERK信号通路，在结直肠癌中可以抑制肿瘤发生。

　　In addition, in our tumour type-specific analyses, we identified a metastatic breast cancer-specific significantly mutated gene—ZFPM1, a zinc-finger transcription factor protein without clear links to cancer.
　　此外，在我们的特定类型肿瘤分析中，我们确定了转移性乳腺癌显著突变基因——ZFPM1，一种与癌症没有明确联系的锌指转录因子蛋白。

　　Our cohort also lends support to previous findings for significantly mutated genes that are currently not included in the COSMIC Cancer Gene Census.
　　我们的队列也支持以前对于显著突变基因的研究结果，这些基因目前不包括在 COSMIC（癌症体细胞突变查询表）癌症基因普查中。

　　In particular, eight significantly mutated putative TSGs found previously in an independent dataset were also found in our analyses, including GPS2, SOX9, TGIF1, ZFP36L1 and ZFP36L2 , HLA-B, MGA, KMT2B and RARG.
　　特别是，在我们的分析中发现了八个显著突变的，假定的肿瘤抑制基因（以前在独立资料组中也发现过），包括GPS2，SOX9，TGIF1，ZFP36L1和ZFP36L2，HLA-B，MGA，KMT2B和RARG。

　　We also searched for genes that were significantly amplified or deleted.
　　我们还寻找了显著扩增或缺失的基因。

　　CDKN2A and PTEN were the most significantly deleted genes overall, but many of the top genes involved common fragile sites, particularly FHIT and DMD, which were deleted in 5% and 4% of samples, respectively.
　　总体说来，CDKN2A和PTEN是最显著缺失的基因，但许多高级别基因包含常见的脆性位点，尤其是FHIT和DMD，分别在5%和4%的样品中缺失。

　　The role of common fragile sites in tumorigenesis is unclear and aberrations that affect these genes are frequently treated as passenger mutations that reflect localized genomic instability.
　　常见的脆性位点在肿瘤发生中的作用尚不明确，影响这些基因的反常现象常被视为反映局部基因组不稳定性的乘客突变。