Department of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.
Curr Opin Oncol. 2010 Jan;22(1):55-63. doi: 10.1097/CCO.0b013e328333dca4.
DNA copy number variations (CNVs) comprise a recently discovered element of genetic variation that affects a greater cumulative fraction of the genome than single-nucleotide polymorphisms (SNPs). This review discusses current understanding of the characteristics of CNVs in the human genome and explores the emerging discoveries of both constitutional and somatic CNVs in an ever-expanding variety of human cancers.
The advent of high-resolution SNP arrays has made it possible to identify CNVs. Characterization of widespread constitutional CNVs offers insight into their role in disease susceptibility, whereas somatic CNVs identify regions of the genome involved in disease phenotype. The role of CNVs in cancer has only emerged in the last 2 years, with constitutional CNVs originally being observed in the Li-Fraumeni cancer susceptibility syndrome, and more recently in neuroblastoma.
It is not yet known how common or how functionally relevant CNVs will be to the process of carcinogenesis. Nonetheless, the inherent instability and structural variability that characterize cancer cell genomes make this form of genetic variation particularly intriguing to the study of cancer.
DNA 拷贝数变异（CNVs）是一种新发现的遗传变异元素，比单核苷酸多态性（SNPs）更能影响基因组的累积分数。本文讨论了人类基因组中 CNVs 的特征，并探讨了在不断增加的各种人类癌症中，结构和体细胞 CNVs 的新发现。
高分辨率 SNP 芯片的出现使得鉴定 CNVs 成为可能。广泛的结构 CNVs 的特征为其在疾病易感性中的作用提供了深入的了解，而体细胞 CNVs 则确定了参与疾病表型的基因组区域。CNVs 在癌症中的作用仅在过去 2 年中才显现出来，结构 CNVs 最初在 Li-Fraumeni 癌症易感性综合征中观察到，最近在神经母细胞瘤中也观察到。
目前还不知道 CNVs 在致癌过程中是多么常见或具有多大的功能相关性。尽管如此，癌症细胞基因组所具有的固有不稳定性和结构可变性，使得这种遗传变异形式对癌症研究特别具有吸引力。
