Mittal Vinay K, McDonald John F
Integrated Cancer Research Center, School of Biology, and Parker H. Petit Institute of Bioengineering and Biosciences, Georgia Institute of Technology, 315 Ferst Dr., Atlanta, GA, 30332, USA.
BMC Med Genomics. 2015 Jul 17;8:40. doi: 10.1186/s12920-015-0118-9.
Genomic rearrangements or structural variants (SVs) are one of the most common classes of mutations in cancer.
An integrated DNA sequencing and transcriptional profiling (RNA sequence and microarray gene expression data) analysis was performed on six ovarian cancer patient samples. Matched sets of control (whole blood) samples from these same patients were used to distinguish cancer SVs of germline origin from those arising somatically in the cancer cell lineage.
We detected 10,034 ovarian cancer SVs (5518 germline derived; 4516 somatically derived) at base-pair level resolution. Only 11 % of these variants were shown to have the potential to form gene fusions and, of these, less than 20 % were detected at the transcriptional level.
Collectively our results are consistent with the view that gene fusions and other SVs can be significant factors in the onset and progression of ovarian cancer. The results further indicate that it may not only be the occurrence of these variants in cancer but their regulation that contributes to their biological and clinical significance.
基因组重排或结构变异（SVs）是癌症中最常见的突变类型之一。
对六个卵巢癌患者样本进行了综合DNA测序和转录谱分析（RNA测序和微阵列基因表达数据）。使用来自这些相同患者的匹配对照（全血）样本集，以区分种系起源的癌症SVs与癌细胞系中体细胞产生的SVs。
我们在碱基对水平分辨率下检测到10,034个卵巢癌SVs（5518个源自种系；4516个源自体细胞）。这些变异中只有11%显示有形成基因融合的潜力，其中不到20%在转录水平被检测到。
总体而言，我们的结果与基因融合和其他SVs可能是卵巢癌发生和进展的重要因素这一观点一致。结果进一步表明，不仅这些变异在癌症中的出现，而且它们的调控都可能对其生物学和临床意义有贡献。
