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Molecular Genetics in Ovarian Cancer
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Molecular Genetics in Ovarian Cancer

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 20 October 2025 | Viewed by 6057

Special Issue Editor

Dr. Bruna Scaggiante

E-Mail Website
Guest Editor
Department of Life Sciences, University of Trieste, Giorgeri 1, 34127 Trieste, Italy
Interests: biological fluids; cancer; cancer biomarkers; cfDI; cfDNA; cfNA; copy number variation; ctDNA; ddPCR; disease-free survival; epigenetic; epigenetic sequencing; exosome; extracellular vesicle; genotyping; liquid biopsy; miRNA; mRNA; mutation; ncRNA; next- generation sequencing; overall survival; progression-free survival; recurrence-free survival; whole-exome sequencing
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Ovarian cancer (OC) is one of the deadliest malignancies in women worldwide due to its heterogeneity and high probability of recurrence, mainly due to chemotherapy resistance in its advanced stages (stages III and IV).

Common germline and somatic gene mutations in OCs such as BRCA and other driver mutations and their association with survival outcomes have recently been of great interest. In addition, OCs are characterised by genomic structural variations with frequent DNA gains and losses, making them a chromosomally unstable malignancy, especially the high-grade serous subtype. These structural changes are important mechanisms for the inactivation of tumour suppressors and cell cycle control genes in OCs.

In addition, there are an increasing number of studies demonstrating models based on differential gene expression that can help classify favourable and poor patient outcomes in patients with advanced-stage OC.

A better understanding of the mechanisms involved in these OC renegade cells’ metastasis and treatment response within the tumour microenvironment is therefore crucial for the implementation of rational oncotherapeutic strategies to prevent recurrence, ultimately improving patients' chances of survival.

Overall, this Special Issue highlights the recent advances in studies unravelling molecular trajectories toward a deeper understanding of molecular genetics and mechanistic pathways in OCs in terms of diagnosis, prognosis, therapeutic response, and chemotherapy resistance.

Dr. Bruna Scaggiante
Guest Editor

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Keywords

  • chemotherapy resistance
  • differential gene expression
  • genomic structural variation
  • ovarian cancer mutations
  • ovarian cancer metastasis
  • ovarian cancer treatment
  • novel molecular targets

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Published Papers (4 papers)

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Research

19 pages, 4153 KiB  
Article
NAC1/ACOX2 Axis as a Novel Therapeutic Target for Endometriosis-Related Ovarian Neoplasms
by Shahataj Begum Sonia, Kentaro Nakayama, Sultana Razia, Naomi Nakayama, Masako Ishikawa, Hitomi Yamashita, Kosuke Kanno, Haruo Takeshita, Umme Farzana Zahan, Hasibul Islam Sohel and Satoru Kyo
Int. J. Mol. Sci. 2025, 26(10), 4938; https://doi.org/10.3390/ijms26104938 - 21 May 2025
Viewed by 605
Abstract
NAC1, a transcription regulator protein associated with cancer, is highly expressed in several tumor types, including ovarian cancer. However, it remains unclear how NAC1 is involved in carcinogenesis. Our previous studies demonstrated that the knockdown of NAC1 in ovarian clear cell carcinoma (OCCC) [...] Read more.
NAC1, a transcription regulator protein associated with cancer, is highly expressed in several tumor types, including ovarian cancer. However, it remains unclear how NAC1 is involved in carcinogenesis. Our previous studies demonstrated that the knockdown of NAC1 in ovarian clear cell carcinoma (OCCC) cell lines induces apoptosis and restores their sensitivity to chemotherapy, suggesting NAC1 as a potential therapeutic target. The present study aimed to identify molecular pathways through which NAC1 is involved in the development of endometriosis-related ovarian neoplasms (ERONs). Immunohistochemistry was performed to clarify the relationship between NAC1 and the potential target protein ACOX2 in surgical specimens of ERONs. Reporter assays were conducted to determine the interaction of NAC1 with the specific cis-element on the ACOX2 promoter. Subsequently, a ChIP assay was performed to investigate the in vivo interaction of NAC1 with the ACOX2 promoter. There was an inverse relationship between NAC1 and ACOX2 expressions in the tumor specimens of ERONs. High NAC1/low ACOX2 expression was found to be a worse prognostic marker for patient survival. Reporter assays demonstrated that NAC1 negatively regulated the ACOX2 promoter via the proximal CATG site. ChIP assays confirmed in vivo binding of NAC1 to the promoter. The present study implicated that NAC1 may contribute to the development of ERONs as a transcriptional repressor by regulating ACOX2 expression via specific binding sites on the promoter, providing a novel insight into the NAC1/ACOX2 axis as a potential therapeutic target of this tumor type. Full article
(This article belongs to the Special Issue Molecular Genetics in Ovarian Cancer)
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22 pages, 1412 KiB  
Article
Hsa-miR-21-5p and Hsa-miR-145-5p Expression: From Normal Tissue to Malignant Changes—Context-Dependent Correlation with Estrogen- and Hypoxia–Vascularization-Related Pathways Genes: A Pilot Study
by Mateusz Górecki, Aleksandra Żbikowska, Małgorzata Tokłowicz, Stefan Sajdak, Monika Englert-Golon and Mirosław Andrusiewicz
Int. J. Mol. Sci. 2025, 26(9), 4461; https://doi.org/10.3390/ijms26094461 - 7 May 2025
Viewed by 934
Abstract
Ovarian cancer (OC) is a severe gynecological malignancy with a high mortality rate among women worldwide. It is often diagnosed at advanced stages due to the lack of effective screening methods. This study investigated the expression patterns of microRNAs (miRNAs) hsa-miR-21-5p and hsa-miR-145-5p [...] Read more.
Ovarian cancer (OC) is a severe gynecological malignancy with a high mortality rate among women worldwide. It is often diagnosed at advanced stages due to the lack of effective screening methods. This study investigated the expression patterns of microRNAs (miRNAs) hsa-miR-21-5p and hsa-miR-145-5p as potential OC prognostic and diagnostic biomarkers and their correlation with estrogen-dependent (ESR1 & 2, PELP1 and c-SRC) and hypoxia–neovascularization-induced (HIF1A, EPAS1, and VEGFA) pathway genes. Tissue samples obtained from twenty patients with confirmed ovarian cancer and twenty controls were analyzed using quantitative polymerase chain reaction (qPCR) to examine miRNA and mRNA levels. The qPCR analysis revealed significantly higher hsa-miR-21-5p and lower hsa-miR-145-5p expression in OC tissues than controls. Moreover, a significant trend was observed in hsa-miR-21-5p and hsa-miR-145-5p expression levels across normal, non-cancerous changes and malignant ovarian tissues. The hsa-miR-21-5p showed better diagnostic potential than hsa-miR-145-5p. We also observed inconsistent correlations in hsa-miR-21-5p and hsa-mir-145-5p and estrogen-related and hypoxia–neovascularization-dependent genes in ovarian cancer across all groups. This suggests that the relationship between these miRNAs and the selected genes is context-specific. Our findings suggest that hsa-miR-21-5p and hsa-miR-145-5p expression levels may be prognostic or diagnostic markers for ovarian cancer patients. Full article
(This article belongs to the Special Issue Molecular Genetics in Ovarian Cancer)
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20 pages, 23388 KiB  
Article
Transcription Factor p73 Is a Predictor of Platinum Resistance and Promotes Aggressive Epithelial Ovarian Cancers
by Ahmed Shoqafi, Reem Ali, Ayat Lashen, Jennie N. Jeyapalan, Asmaa Ibrahim, Michael S. Toss, Emad A. Rakha, Mashael Algethami, Shatha Alqahtani, Nigel P. Mongan, Dindial Ramotar and Srinivasan Madhusudan
Int. J. Mol. Sci. 2025, 26(7), 3239; https://doi.org/10.3390/ijms26073239 - 31 Mar 2025
Viewed by 2635
Abstract
Resistance to platinum-based chemotherapy is a major clinical problem in ovarian cancers. The development of predictive biomarkers and therapeutic approaches is an area of unmet need. p73, a member of the p53 family of transcription factors, has essential functions during DNA repair, proliferation, [...] Read more.
Resistance to platinum-based chemotherapy is a major clinical problem in ovarian cancers. The development of predictive biomarkers and therapeutic approaches is an area of unmet need. p73, a member of the p53 family of transcription factors, has essential functions during DNA repair, proliferation, invasion, and apoptosis. The role of p73 in ovarian cancer pathogenesis and response to therapy is largely unknown. The clinicopathological significance of p73 protein expression was evaluated in 278 human ovarian cancers. TP73 transcripts were investigated in publicly available clinical data sets (n = 522) and bioinformatics analysis was completed in the ovarian TCGA cohort (n = 182). Preclinically, p73 was overexpressed in A2780 platinum-sensitive ovarian cancer cells or depleted in platinum-resistant A2780cis cells and investigated for aggressive phenotypes, as well as platinum sensitivity. High p73 protein expression was linked with high grade (p < 0.001), advanced-stage disease (p = 0.002), and shorter progression-free survival (p < 0.0001). TP73 transcripts were significantly higher in tumours compared to normal tissue (p < 0.0001) and linked with shorter PFS (p = 0.047). Preclinically, p73 overexpression in A2780 cells increased proliferation, invasion, spheroid formation, and DNA repair capacity, and was associated with the upregulation of multiple DNA repair and platinum resistance-associated genes. In contrast, p73 deletion in A2780cis led to reduced proliferation and enhanced sensitivity to cisplatin, along with DNA double-strand break accumulation, G2/M cell cycle arrest, and increased apoptosis. We conclude that p73 is a predictor of platinum resistance. p73 can be exploited for targeted ovarian cancer therapy. Full article
(This article belongs to the Special Issue Molecular Genetics in Ovarian Cancer)
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15 pages, 35957 KiB  
Article
Establishment of a Novel In Vitro and In Vivo Model to Understand Molecular Carcinogenesis of Endometriosis-Related Ovarian Neoplasms
by Hasibul Islam Sohel, Tohru Kiyono, Umme Farzana Zahan, Sultana Razia, Masako Ishikawa, Hitomi Yamashita, Kosuke Kanno, Shahataj Begum Sonia, Kentaro Nakayama and Satoru Kyo
Int. J. Mol. Sci. 2025, 26(5), 1995; https://doi.org/10.3390/ijms26051995 - 25 Feb 2025
Cited by 1 | Viewed by 1390
Abstract
The molecular mechanisms through which endometriosis-related ovarian neoplasms (ERONs) develop from benign endometrioma remain unclear. It is especially a long-standing mystery why ovarian endometrioma has the potential to develop into two representative histological subtypes: endometrioid ovarian carcinoma or clear cell ovarian carcinoma. This [...] Read more.
The molecular mechanisms through which endometriosis-related ovarian neoplasms (ERONs) develop from benign endometrioma remain unclear. It is especially a long-standing mystery why ovarian endometrioma has the potential to develop into two representative histological subtypes: endometrioid ovarian carcinoma or clear cell ovarian carcinoma. This study aimed to investigate the molecular carcinogenesis of ERONs using newly developed in vitro and in vivo carcinogenesis models. Epithelial cells were isolated and purified from surgically removed benign endometrioma samples, followed by immortalization by overexpressing cyclinD1/CDK4 in combination with the human TERT gene. Immortalized cells were subjected to various molecular manipulations by combining knockout or overexpression of several candidate drivers, including ARID1A, KRAS, PIK3CA, AKT, and MYC, based on previous comprehensive genome-wide studies of ERONs. These cells were then inoculated into immunocompromised mice and evaluated for malignant transformation. Inoculated cells harboring a combination of three genetic alterations successfully developed tumors with malignant features in mice, whereas those with two genetic manipulations failed to do so. Especially, ARID1A gene knockout, combined with overexpressing the KRAS oncogenic mutant allele (or overexpressing AKT) and c-Myc overexpression led to efficient tumor formation. Of note, these three combinations of genetic alterations produced tumors that histologically represented typical clear cell carcinoma in SCID mice, while the same combination led to tumors with endometrioid histology in nude mice. A combination of ARID1A mutation, KRAS mutation or AKT activation, and c-Myc overexpression were confirmed to be the main candidate drivers for the development of ERONs, as suggested by comprehensive genetic analyses of ERONs. A tumor immune microenvironment involving B-cell signaling may contribute to the diverse histological phenotypes. The present model may help to clarify the molecular mechanisms of ERON carcinogenesis and understand their histological diversity and novel molecular targets. Full article
(This article belongs to the Special Issue Molecular Genetics in Ovarian Cancer)
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