Abstract：
Testicular germ cell tumors (TGCTs) are a common malignancy occurring in young adult men. The various genetic risk factors have been suggested to contribute to TGCT pathogenesis, however, they have a distinct mutational profile with a low rate of somatic point mutations, more frequent chromosomal gains, and aneuploidy. The most frequently mutated oncogenes in human cancers are RAS oncogenes, while their impact on testicular carcinogenesis and refractory disease is still poorly understood. In this mini-review, we summarize current knowledge on genetic alternations of RAS signaling-associated genes (the single nucleotide polymorphisms and point mutations) in this particular cancer type and highlight their link to chemotherapy resistance mechanisms. We also mention the impact of epigenetic changes on TGCT progression. Lastly, we propose a model for RAS-dependent signaling networks, regulation, cross-talks, and outcomes in TGCTs.
摘要：
睾丸生殖细胞肿瘤（TGCT）是一种常见的恶性肿瘤，发生在年轻的成年男性。各种遗传危险因素已被认为有助于TGCT发病机制，然而,它们具有明显的突变谱，体细胞点突变率低，更频繁的染色体增益，和非整倍体。人类癌症中最常见的突变癌基因是RAS癌基因，虽然它们对睾丸癌变和难治性疾病的影响仍然知之甚少。在这个小型审查中，我们总结了当前关于RAS信号相关基因在这一特定癌症类型中的遗传变化(单核苷酸多态性和点突变)的知识,并强调了它们与化疗耐药机制的联系.我们还提到了表观遗传变化对TGCT进展的影响。最后,我们提出了一个基于RAS的信令网络模型，regulation,交叉对话,和TGCT的结果。
