浆液性卵巢癌的基因组拷贝数改变

J. Delaney, D. Stupack
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引用次数: 3

摘要

癌症精准医学的理念是,识别和瞄准患者肿瘤的关键遗传驱动因素,可以实现更有效、毒性更小的结果。改变蛋白质功能的点突变一直是主要目标。然而,在卵巢癌中,仅在成人颗粒细胞肿瘤中发现了独特的基因突变,在粘液、透明细胞和子宫内膜样car - cinoma亚型中存在许多其他点突变。相比之下,浆液型卵巢癌表现出更少的点突变,但DNA损伤修复中的级联缺陷导致整个基因的增益和损失网络,称为体细胞拷贝数改变。浆液性卵巢癌中数千个基因的重组和选择使其成为一种难以理解的复杂疾病,但基于我们对关键细胞蛋白质网络的理解,模式开始出现,这可能为未来对这种最普遍的亚型疾病实施精准医学提供更好的基础。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genomic Copy Number Alterations in Serous Ovarian Cancer
Precision medicine in cancer is the idea that the recognition and targeting of key genetic drivers of a patient’s tumor can permit more effective and less toxic outcomes. Point mutations that alter protein function have been primary targets. Yet in ovarian cancer, unique genetic mutations have been identified only in adult granulosa cell tumors, with a number of other point mutations present in mucinous, clear cell and endometrioid car - cinoma subtypes. By contrast, the serous subtype of ovarian cancer shows many fewer point mutations but cascading defects in DNA damage repair that leads to a network of gains and losses of entire genes called somatic copy number alterations. The shuffling and selection of the thousands of genes in serous ovarian cancer has made it a complex disease to understand, but patterns are beginning to emerge based on our understanding of key cellular protein networks that may provide a better basis for future implementa - tion of precision medicine for this most prevalent subtype of disease.
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