《英文文献/摘要翻译》站在时间尽头2012

11、Copy number alteration landscape

　　Pan-cancer, the most highly amplified regions in our metastatic cancer cohort contain established oncogenes such as EGFR, CCNE1, CCND1 and MDM2.
　　泛癌症，在我们的转移癌队列中最高度扩增的区域，包含已确定的癌基因如EGFR，CCNE1，CCND1和MDM2。

　　（扩增：基因扩增，非正常过程，常出现于肿瘤细胞。）

　　The chromosomal arms 1q, 5p, 8q and 20q are also highly enriched in moderate amplification across the cohort, with each affecting more than 20% of all samples.
　　染色体臂1q，5p，8q和20q也在整个队列的适度扩增中数量颇多，每个染色体臂影响了超过20%的样本。

　　For amplifications of 5p and 8q, this is probably related to the common amplification targets of TERT and MYC, respectively.
　　对于5p和8q的扩增，可能分别与基因TERT和MYC共同的扩增靶向有关。

　　However, the targets of amplifications on 1q, which are predominantly found in breast cancers (more than 50% of samples), and amplifications on 20q, which are predominantly found in colorectal cancers (more than 65% of samples), are less clear.
　　然而，1q 的扩增靶向（主要发现于乳腺癌，超过 50 %的样本）和20q的扩增靶向（主要发现于结直肠癌，超过 65 %的样本），尚不太清楚。

　　Overall, an average of 23% of the autosomal DNA per tumour has loss of heterozygosity (LOH).
　　总体来说，平均每一个肿瘤23%的常染色体DNA有杂合性丢失。

　　（杂合性：某一基因座上的等位基因——同源染色体相同位置上，控制同一性状不同形态的基因，如Aa——是杂合体的频率。

　　杂合性丢失：导致某一特殊基因正常的两个成对等位基因出现不同的基因组变化。一般与肿瘤的抑制基因有关，在两个等位基因都存在时，会抑制恶性肿瘤的发生。当一个等位基因明显异常或缺失时，不再发生抑制恶性状态，细胞就转化为癌细胞。）

　　Unsurprisingly, TP53 has the highest LOH recurrence at 67% of samples, and many of the other LOH peaks are also explained by well-known tumour-suppressor genes (TSGs).
　　不出所料，TP53在67%的样本中有最高的杂合性丢失复发率，而其他许多杂合性丢失峰值也可由一些众所周知的肿瘤抑制基因（TSGs）解释。

　　However, several clear LOH peaks are observed that cannot easily be explained by known TSG selection, such as one on 8p.
　　然而，有几个观察到的明显的杂合性丢失峰值，不能轻易用已知的肿瘤抑制基因选择解释，譬如8p上的一个。

　　LOH at 8p has previously been linked to lipid metabolism and drug responses, although the involvemement of individual genes has not been established.
　　尽管个体基因的参与还未被确定，但是8p上的杂合性丢失从前被认为与脂质代谢、药物反应有关。