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Scratching Below the Ovarian Cancer GWAS Surface
Cancer Epidemiology, Biomarkers & Prevention ( IF 3.8 ) Pub Date : 2021-09-01 , DOI: 10.1158/1055-9965.epi-21-0568
Lauren C Peres 1 , Alvaro N Monteiro 1
Affiliation  

Despite recent notable treatment advancements, ovarian cancer survival rates remain poor, with about half of women surviving five years after diagnosis. Uncovering novel prognostic factors is critical to better understand and reduce mortality from this deadly disease. While genome-wide association studies have identified numerous loci associated with risk of epithelial ovarian cancer, the investigation of genetic factors associated with outcomes among women with ovarian cancer has been limited due to several challenges summarized in the present commentary. Using data from the Ovarian Cancer Association Consortium, Quinn and colleagues conducted a genome-wide association study of patients with ovarian cancer receiving debulking surgery and standard chemotherapy as first-line treatment, revealing a locus at 12q24.33 associated with progression-free survival. Experimental evidence suggests that ULK1 , a gene coding for a serine/threonine kinase implicated in autophagy, is the target of the association. We discuss the novelty of these findings, unanswered questions, and next steps for the road ahead in translating the work of Quinn and colleagues into clinical practice. See related article by Quinn et al., [p. 1669][1] [1]: /lookup/volpage/30/1669?iss=9

中文翻译:

在卵巢癌 GWAS 表面下方抓挠

尽管最近的治疗取得了显着进展,但卵巢癌的存活率仍然很低,大约一半的女性在诊断后存活了五年。发现新的预后因素对于更好地了解和降低这种致命疾病的死亡率至关重要。虽然全基因组关联研究已经确定了许多与上皮性卵巢癌风险相关的位点,但由于本评论中总结的几个挑战,对与卵巢癌女性结果相关的遗传因素的调查受到限制。使用卵巢癌协会联盟的数据,Quinn 及其同事对接受减瘤手术和标准化疗作为一线治疗的卵巢癌患者进行了全基因组关联研究,揭示了 12q24.5 位点的位点。33 与无进展生存期相关。实验证据表明,ULK1,一种编码与自噬有关的丝氨酸/苏氨酸激酶的基因,是该关联的目标。我们讨论了这些发现的新颖性、悬而未决的问题,以及将 Quinn 及其同事的工作转化为临床实践的下一步工作。参见 Quinn 等人的相关文章,[p. 1669][1][1]:/lookup/volpage/30/1669?iss=9
更新日期:2021-09-02
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