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Integrative Multi-omics of Gynecological Tumors Identifies Novel Singular Biomarkers of Disease Progression

Muthamilselvan, S.; Palaniappan, A.

2025-02-23 oncology
10.1101/2025.02.21.25322653 medRxiv
Show abstract

Gynecological cancers represent a cluster of largely preventable and treatable diseases afflicting women, but with persistent substantial global burden of disease complicated by extant social factors especially in developing countries. Cervical, ovarian and endometrial cancers comprise the major gynecological cancers that might benefit from early-stage diagnosis and personalized treatment strategies. In this work, we performed integrative multi-omics analysis of public-domain omics datasets from The Cancer Genome Atlas consortium and coupled it with custom protocols to identify consensus candidate biomarkers of each of the major gynecological cancers. Such consensus biomarkers were individually evaluated for their ability to classify cancer and normal samples and those with AUROC > 0.9 were identified as singular biomarkers. Our study yielded the following singular biomarkers: (i) endometrial cancer: MYOZ2, CYP1B1, PPP1R3C, DNASE1L3, ADAMTSL1, LRCH2, RBM20, LOC284276, FAM78B, COL14A1, and PDZRN3; (ii) ovarian cancer: C7 and LONRF2; and (iii) cervical cancer: HAND2, C1QTNF7, JAM3 (with AUROC > 0.99) as well as HSPB7, ACTA2 and DACT7. We demonstrated that factors from multi-omics analysis of endometrial cancer enabled a geometric separation of the cancer and normal samples. Our results could encourage further research into the multi-omics - based subtypes of these cancers. Our methods could be extended to the analysis of datasets of other cancer types and our studies could pave the way for the development of integrated screening models for the major gynecological cancers.

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