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Genetics of Ovarian Cancer (2nd Edition)

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Pathophysiology".

Deadline for manuscript submissions: 30 May 2026 | Viewed by 2161

Special Issue Editors


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Guest Editor
1. Department of Medical Oncology, Ioannina University Hospital, Ioannina, Greece
2. Faculty of Medicine, School of Health Sciences, University of Ioannina, Ioannina, Greece
3. AELIA Organization, 9th Km Thessaloniki-Thermi, 57001 Thessaloniki, Greece
4. Faculty of Medicine, Health and Social Care, Canterbury Christ Church University, Canterbury, UK
5. School of Cancer and Pharmaceutical Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK
6. Kent and Medway Medical School, University of Kent, Canterbury, UK
7. Department of Research and Innovation, Medway NHS Foundation Trust, Gillingham, UK
Interests: prostate cancer; renal cancer; ovarian cancer; homologous recombination of DNA; PARP inhibitors; cervical cancer; carcinoma of unknown primary; colorectal cancer; cancer and autoimmune diseases; biomarkers
Special Issues, Collections and Topics in MDPI journals

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Guest Editor
1. High Dimensional Neurology Group, UCL Queen's Square Institute of Neurology, London WC1N 3BG, UK
2. Department of Oncology, Guy's and St Thomas' Hospital, London SE1 9RT, UK
3. School of Cancer & Pharmaceutical Sciences, King's College London, Strand, London WC2R 2LS, UK
Interests: novel MRI techniques; ovarian cancer;prostate cancer
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue is a continuation of our previous Special Issue, “Genetics of Ovarian Cancer” (https://www.mdpi.com/journal/cancers/special_issues/F58V953794).

Epithelial ovarian cancers (EOCs), which are characterized by recurrent, persistent disease and the rapid acquisition of chemotherapy resistance, remain one of the most lethal gynaecological malignancies. DNA damage is one of the hallmarks of cancer. Among EOCs, the high-grade serous subtype harbours a defect in at least one DNA damage response (DDR) pathway. Defective DDR results from a variety of lesions affecting homologous recombination (HR) and nonhomologous end joining (NHEJ) for double-strand breaks, base excision repair (BER), and nucleotide excision repair (NER) for single-strand breaks and mismatch repair (MMR).

We are pleased to invite you to submit manuscripts that help the community to understand that DDR pathways are essential in order to optimize the therapeutic choices, as well as highlight the importance of designing biomarker-driven clinical trials. Poly(ADP-ribose) polymerase (PARP) inhibitors are a well-established treatment for EOCs. Moreover, combinations of PARP inhibitors with drugs that inhibit HR may sensitize EOCs with a primary or secondary HR proficiency to PARP inhibitors and potentially expand their use beyond HR-deficient ovarian cancers. Regarding this, PARP inhibitors may be combined separately with anti-angiogenics and immune checkpoint inhibitors as well as with phosphoinositide 3-kinase (PI3K), protein kinase B (AKT), mammalian target of rapamycin (mTOR), WEE1, mitogen-activated protein kinase (MEK), and cyclin-dependent kinase (CDK) 4/6 inhibitors, or even with standard chemotherapy.

Through this Special Issue, we aim to elucidate the mechanisms implicated in DDR, the genomic analysis of ovarian cancer, and therapeutics of PARP inhibitors, and predictive biomarkers.

This Special Issue welcomes manuscripts whose scope includes, but is not limited to, the following topics:

  • EOC risk assessment in the era of next-generation sequencing;
  • Predictive and prognostic biomarkers in EOC;
  • DNA damage response;
  • PARP inhibitors in EOC;
  • PARP inhibitors in combination with other therapies;
  • Immunotherapy in EOC;
  • Chemoresistance;
  • Regression.

We look forward to receiving your contributions.

Dr. Stergios Boussios
Dr. Sola Adeleke
Guest Editors

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • epithelial ovarian cancer
  • genomics
  • epigenetics
  • translational research
  • biomarkers
  • DNA damage response
  • PARP inhibitors

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Published Papers (2 papers)

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Review

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31 pages, 1505 KB  
Review
LncRNAs in Ovarian Cancer: Emerging Insights and Future Perspectives in Tumor Biology and Clinical Applications
by Michaela A. Boti, Marios A. Diamantopoulos, Sevastiana Charalampidou and Andreas Scorilas
Cancers 2026, 18(3), 484; https://doi.org/10.3390/cancers18030484 - 1 Feb 2026
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Abstract
Background/Objectives: Ovarian cancer (OC) remains one of the most lethal gynecological malignancies, mainly because it is frequently diagnosed at advanced stages due to nonspecific symptoms and the lack of effective screening strategies. Long non-coding RNAs (lncRNAs) have emerged as key regulators of [...] Read more.
Background/Objectives: Ovarian cancer (OC) remains one of the most lethal gynecological malignancies, mainly because it is frequently diagnosed at advanced stages due to nonspecific symptoms and the lack of effective screening strategies. Long non-coding RNAs (lncRNAs) have emerged as key regulators of gene expression, and accumulating evidence implicates them in OC initiation, progression, and treatment response. This review aims to comprehensively summarize the molecular mechanisms of lncRNAs in OC, examine their clinical potential as biomarkers, and discuss emerging technologies that are about to advance lncRNA research and therapeutics in OC. Methods: A comprehensive review of published studies investigating lncRNA expression, function, and clinical relevance in OC was conducted. Mechanistic insights were integrated across multiple regulatory levels, including epigenetic, transcriptional, post-transcriptional, and post-translational control. Advances in transcriptomic technologies and RNA-targeting techniques were also examined. Results: LncRNAs influence OC through diverse mechanisms, including chromatin remodeling, transcriptional regulation, RNA splicing, mRNA stability, protein modulation, competing endogenous RNA networks, and nuclear organization. Their dysregulation is linked to tumor progression, metastasis, chemoresistance, and poor patient outcomes. Numerous lncRNAs exhibit diagnostic and prognostic value, underscoring their clinical potential. Advances in long-read sequencing have improved lncRNA annotation and isoform resolution, while CRISPR-Cas13 offers a potential approach for selective RNA-targeted therapy. Conclusions: LncRNAs are critical molecules in OC development and progression, holding potential in advancing OC diagnosis, prognosis, and treatment. Continued integration of functional studies, advanced sequencing technologies, and RNA-targeting approaches can facilitate the clinical translation of lncRNAs for early OC diagnosis and management. Full article
(This article belongs to the Special Issue Genetics of Ovarian Cancer (2nd Edition))
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23 pages, 497 KB  
Systematic Review
The Contribution of Genetic Modifiers to Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers
by Dagmara Cylwik, Roksana Dwornik and Katarzyna Białkowska
Cancers 2026, 18(3), 354; https://doi.org/10.3390/cancers18030354 - 23 Jan 2026
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Abstract
The article presents the current state of knowledge on genetic modifiers of ovarian cancer risk in women carrying pathogenic variants (PVs) in the BRCA1 and BRCA2 genes, which are major contributors to hereditary susceptibility to this malignancy. Although PV carriers have high disease [...] Read more.
The article presents the current state of knowledge on genetic modifiers of ovarian cancer risk in women carrying pathogenic variants (PVs) in the BRCA1 and BRCA2 genes, which are major contributors to hereditary susceptibility to this malignancy. Although PV carriers have high disease penetrance (BRCA1: ~40% and BRCA2: 11–27%), substantial variability in individual risk is observed, suggesting the influence of additional genetic variants. Background: Ovarian cancer is characterized by late detection and high mortality, and a significant portion of risk among BRCA1/2 carriers is shaped by reproductive and environmental factors as well as genetic modifiers. The article emphasizes that carriers of the same BRCA PV can exhibit markedly different risk levels depending on additional variants that modulate key biological processes, such as DNA repair, cell cycle regulation, and apoptosis. Methods: A systematic literature search covering the years 1996–2025 was conducted in the PubMed database. Initially, 734 publications were identified; after removing duplicates, thematically irrelevant articles, non-full-text papers, and studies not meeting the inclusion criteria, 47 articles were included in the review. These studies covered candidate gene analyses, GWAS, and data from the CIMBA consortium, which enables the examination of large cohorts of PV carriers. Results: The review identified numerous variants associated with increased or decreased ovarian cancer risk in BRCA1 carriers, including the following: OGG1, DR4, MDM2, CYP2A7, CASP8, ITGB3, HRAS1, TRIM61, and MTHFR. The reviewed studies also identified both protective and risk-increasing variants among BRCA2 PV carriers: UNG, TDG, and PARP2, and haplotypes in ATM, BRIP1, BARD1, MRE11, RAD51, and 9p22.2. The analysis identified 11 variants affecting both BRCA1 and BRCA2 carriers, most of which increase risk, including the following: IRS1, RSPO1, SYNPO2, BABAM1, MRPL34, PLEKHM1, and TIPARP. Protective variants include BNC2 and LINC00824. The only SNP reaching genome-wide significance (p < 5 × 10−8) was in BNC2. Conclusions: The article summarizes the growing number of genetic modifiers of ovarian cancer risk among BRCA1/2 carriers and highlights their potential to improve individualized risk assessment, enhance patient stratification, support personalized prevention and surveillance strategies, deepen the understanding of disease biology, and identify potential therapeutic targets. Full article
(This article belongs to the Special Issue Genetics of Ovarian Cancer (2nd Edition))
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