Laboratory of Translational Genomics, Division of Cancer Epidemiology & Genetics, NCI, Bethesda, Maryland.
Cancer Res. 2019 Feb 1;79(3):439-440. doi: 10.1158/0008-5472.CAN-18-3938.
Efforts from the past decade in genomic analyses improved our understanding of genetic susceptibility to epithelial ovarian cancer (EOC). While genome-wide association studies (GWAS) have successfully identified approximately 40 genomic loci contributing to risk, a functional understanding of the molecular mechanisms underlying all but a few of these loci is lacking. The work by Buckley and colleagues has comprehensively characterized an EOC locus on chromosome band 9p22.2, identifying -regulatory functional sequence variants underlying multiple independent GWAS signals at 9p22.2 both within enhancer elements, as well as within a nuclear scaffold/matrix attachment region. Their findings further provide evidence implicating the basonuclin 2 () gene in EOC risk and broaden the understanding of ovarian cancer biology..
过去十年在基因组分析方面的努力提高了我们对上皮性卵巢癌 (EOC) 遗传易感性的理解。虽然全基因组关联研究 (GWAS) 已成功鉴定出约 40 个基因组位点与风险相关，但除了少数几个位点之外，对于这些位点所涉及的分子机制的功能理解还很缺乏。Buckley 及其同事的工作全面描述了染色体 9p22.2 上的一个 EOC 位点，鉴定了 9p22.2 上多个独立 GWAS 信号所涉及的 -调节功能序列变异，这些信号位于增强子元件内，以及核支架/基质附着区域内。他们的研究结果进一步提供了证据，表明 basonuclin 2 () 基因与 EOC 风险相关，并拓宽了对卵巢癌生物学的理解。
