An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays
An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays
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DOI：
10.1158/0008-5472.can-03-3308
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发表时间：
2004-05-01
期刊：
影响因子：
11.2
通讯作者：
Meyerson, M
中科院分区：
文献类型：
--
作者：
Zhao, XJ;Li, C;Meyerson, M
DNA拷贝数的变化有助于癌症发病机制。我们现在表明，高密度单核苷酸多态性（SNP）阵列可以检测拷贝数的变化。通过将乳腺癌和肺癌细胞系以及肺肿瘤DNA的基因组表示与SNP阵列杂交，并测量位点特异性杂交强度，我们在这些癌症样品中检测到已知和新的基因组扩增和纯合缺失。此外，通过结合基因分型和SNP定量，我们可以区分由半合子缺失引起的杂合性丢失事件和由拷贝中性事件引起的杂合性丢失事件。通过SNP阵列同时测量DNA拷贝数变化和杂合性丢失事件，将加强我们发现致癌基因和改进癌症诊断的能力。
Changes in DNA copy number contribute to cancer pathogenesis. We now show that high-density single nucleotide polymorphism (SNP) arrays can detect copy number alterations. By hybridizing genomic representations of breast and lung carcinoma cell line and lung tumor DNA to SNP arrays, and measuring locus-specific hybridization intensity, we detected both known and novel genomic amplifications and homozygous deletions in these cancer samples. Moreover, by combining genotyping with SNP quantitation, we could distinguish loss of heterozygosity events caused by hemizygous deletion from those that occur by copy-neutral events. The simultaneous measurement of DNA copy number changes and loss of heterozygosity events by SNP arrays should strengthen our ability to discover cancer-causing genes and to refine cancer diagnosis.