The wealth of genomic data uncovered by large-scale sequencing studies during the past decade has identified key somatic mutations that drive cancer initiation and progression. In contrast, much less information is available about inherited (germline) gene variants that contribute to malignancy¹ and even less about the mechanisms by which these variants increase cancer predisposition. This information is particularly important for CNS cancers because these tumors have few identified environmental risk factors, suggesting a higher contribution of the genetic makeup of the patients towards malignant transformation.

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文学亮点

过去十年间大规模测序研究发现的大量基因组数据已经确定了驱动癌症发生和发展的关键体细胞突变。相反，关于导致恶性肿瘤的遗传（生殖系）基因变异的可用信息少得多这些变体增加癌症易感性的机制与图¹甚至更少有关。该信息对于中枢神经系统癌症特别重要，因为这些肿瘤几乎没有确定的环境危险因素，这表明患者的基因组成对恶性转化的贡献更大。