The Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON; Institute of Medical Sciences, University of Toronto, Toronto, ON; Department of Obstetrics and Gynecology, University of Toronto, Toronto, ON.
The Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON; Department of Obstetrics and Gynecology, University of Toronto, Toronto, ON; Department of Physiology, University of Toronto, Toronto, ON.
Neoplasia. 2018 Jul;20(7):697-709. doi: 10.1016/j.neo.2018.05.005. Epub 2018 May 28.
Germline BRCA1 or BRCA2 mutations (mtBRCA1 and mtBRCA2) increase risk for high-grade serous ovarian cancer (HGSOC), the most commonly diagnosed epithelial ovarian cancer histotype. Other identified risk factors for this cancer, which originates primarily in the distal fallopian tube epithelium (FTE), implicate ovulation, during which the FTE cells become transiently exposed to follicular fluid (FF). To test whether mtBRCA1 or mtBRCA2 nonmalignant FTE cells respond differently to periovulatory FF exposure than control patient FTE cells, gene expression profiles from primary FTE cultures derived from BRCA1 or BRCA2 mutation carriers or control patients were compared at baseline, 24 hours after FF exposure, and 24 hours after FF replacement with culture medium. Hierarchical clustering revealed both FF exposure and BRCA mutation status affect gene expression, with BRCA1 mutation having the greatest impact. Gene set enrichment analysis revealed increased NFκB and EGFR signaling at baseline in mtBRCA1 samples, with increased interferon target gene expression, including members of the ISGylation pathway, observed after recovery from FF exposure. Gene set enrichment analysis did not identify altered pathway signaling in mtBRCA2 samples. An inverse relationship between EGFR signaling and ISGylation with BRCA1 protein levels was verified in an immortalized FTE cell line, OE-E6/E7, stably transfected with BRCA1 cDNA. Suppression of ISG15 and ISGylated protein levels by increased BRCA1 expression was found to be mediated by decreased NFκB signaling. These studies indicate that increased NFκB signaling associated with decreased BRCA1 expression results in increased ISG15 and protein ISGylation following FF exposure, which may be involved in predisposition to HGSOC.
种系 BRCA1 或 BRCA2 突变(mtBRCA1 和 mtBRCA2)增加了高级别浆液性卵巢癌(HGSOC)的风险,这是最常见的上皮性卵巢癌组织学类型。其他已确定的这种癌症的风险因素,主要起源于远端输卵管上皮(FTE),提示排卵,在此期间 FTE 细胞暂时暴露于卵泡液(FF)中。为了测试 mtBRCA1 或 mtBRCA2 非恶性 FTE 细胞对围排卵期 FF 暴露的反应是否与对照患者 FTE 细胞不同,从 BRCA1 或 BRCA2 突变携带者或对照患者的原发性 FTE 培养物中比较了基因表达谱,在基线时、FF 暴露后 24 小时和 FF 用培养基替代后 24 小时。层次聚类显示 FF 暴露和 BRCA 突变状态都影响基因表达,BRCA1 突变的影响最大。基因集富集分析显示 mtBRCA1 样本中 NFκB 和 EGFR 信号通路在基线时增加,干扰素靶基因表达增加,包括 ISGylation 途径的成员,在从 FF 暴露中恢复后观察到。mtBRCA2 样本中未发现改变的途径信号。在一个永生化的 FTE 细胞系 OE-E6/E7 中,通过稳定转染 BRCA1 cDNA,验证了 BRCA1 蛋白水平与 EGFR 信号和 ISGylation 的逆相关关系。发现增加的 BRCA1 表达抑制 ISG15 和 ISG 化蛋白水平是由 NFκB 信号的降低介导的。这些研究表明,与 BRCA1 表达降低相关的 NFκB 信号增加导致 FF 暴露后 ISG15 和蛋白 ISGylation 增加,这可能与 HGSOC 的易感性有关。