Precision gynecologic oncology: circulating cell free DNA epigenomic analysis, artificial intelligence and the accurate detection of ovarian cancer

Author:

Bahado-Singh Ray O.,Ibrahim Amin,Al-Wahab Zaid,Aydas Buket,Radhakrishna Uppala,Yilmaz Ali,Vishweswaraiah Sangeetha

Abstract

AbstractOvarian cancer (OC) is the most lethal gynecologic cancer due primarily to its asymptomatic nature and late stage at diagnosis. The development of non-invasive markers is an urgent priority. We report the accurate detection of epithelial OC using Artificial Intelligence (AI) and genome-wide epigenetic analysis of circulating cell free tumor DNA (cfTDNA). In a prospective study, we performed genome-wide DNA methylation profiling of cytosine (CpG) markers. Both conventional logistic regression and six AI platforms were used for OC detection. Further, we performed Gene Set Enrichment Analysis (GSEA) analysis to elucidate the molecular pathogenesis of OC. A total of 179,238 CpGs were significantly differentially methylated (FDR p-value < 0.05) genome-wide in OC. High OC diagnostic accuracies were achieved. Conventional logistic regression achieved an area under the ROC curve (AUC) [95% CI] 0.99 [± 0.1] with 95% sensitivity and 100% specificity. Multiple AI platforms each achieved high diagnostic accuracies (AUC = 0.99–1.00). For example, for Deep Learning (DL)/AI AUC = 1.00, sensitivity = 100% and 88% specificity. In terms of OC pathogenesis: GSEA analysis identified ‘Adipogenesis’ and ‘retinoblastoma gene in cancer’ as the top perturbed molecular pathway in OC. This finding of epigenomic dysregulation of molecular pathways that have been previously linked to cancer adds biological plausibility to our results.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3