Special Issue "Genetics and Epigenetics of Gynecological Cancer"

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

Deadline for manuscript submissions: 31 March 2024 | Viewed by 631

Special Issue Editor

Department of Experimental and Clinical Medicine, “Magna Græcia” University of Catanzaro, 88100 Catanzaro, Italy
Interests: ovarian cancer; platinum drug resistance; cancer NGS; extracellular matrix; heparan sulphates

Special Issue Information

Dear Colleagues,

Gynecologic cancers are the most commonly diagnosed cancers in women, but their clinical management remains difficult. The great heterogeneity of these malignancies suggests that different pathogenetic mechanisms underlie their development, hampering the efficacy of therapeutic strategies. The identification of actionable genetic alterations in gynecologic cancers has not advanced much compared with other solid cancers, and survival rates have remained relatively unchanged over the past decade. Moreover, in recent years, it has become apparent that epigenetic alterations, in combination with or as an alternative to inherited genetic variations and acquired somatic gene mutations, can destabilize normal cellular control mechanisms, predisposing to or promoting cancer. Understanding the true balance between these two types of alterations in cancer cells will help improve diagnosis and therapy.

The goal of this Special Issue is to provide insights into the epigenetic and genetic alterations of cancer cells in gynecologic malignancies to gain further insight into the regulation of gene expression and to identify predictive biomarkers for response to tailored therapies.

In this Special Issue, original research articles and review papers are welcome. Research areas may cover a variety of topics, from identifying novel oncogenic drivers and epigenetic modifiers and characterizing their mechanisms to developing innovative diagnostic and therapeutic strategies. The use of advanced technologies is also encouraged (e.g., omics platforms, single-cell sequencing, liquid biopsy analysis, etc.).

I look forward to receiving your contributions.

Dr. Carmela De Marco
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.

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.


  • gynecologic cancers
  • epigenetics
  • genetics
  • immunogenetics
  • predisposing mutations
  • biomarkers
  • targeted therapies
  • chemoresistance

Published Papers (1 paper)

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9 pages, 397 KiB  
MLH1 Methylation Testing as an Integral Component of Universal Endometrial Cancer Screening—A Critical Appraisal
Cancers 2023, 15(21), 5188; https://doi.org/10.3390/cancers15215188 - 28 Oct 2023
Viewed by 472
MLH1/PMS2 loss due to MLH1 promoter hypermethylation (MLH1-PHM) is the most common cause of mismatch repair (MMR) deficiency in endometrial cancer (EC). This study aimed to determine the proportion of MLH1-deficient EC with PHM, assess the impact of the reflex [...] Read more.
MLH1/PMS2 loss due to MLH1 promoter hypermethylation (MLH1-PHM) is the most common cause of mismatch repair (MMR) deficiency in endometrial cancer (EC). This study aimed to determine the proportion of MLH1-deficient EC with PHM, assess the impact of the reflex MLH1-PHM testing strategy, and evaluate the associated costs within the publicly funded Canadian healthcare system. In a cohort of 2504 EC samples, 534 (21.4%) exhibited dual MLH1/PMS2 loss, prompting MLH1-PHM testing. Among 418 cases with available testing results, 404 (96.7%) were MLH1-hypermethylated, while 14 (3.3%) were non-methylated. The incidence of MLH1 non-methylated cases in our cohort was 14/2504 (0.56%) of all ECs, underscoring the prevalence of hypermethylation-driven MLH1/PMS2 loss in ECs universally screened for MMR deficiency. Reflex MLH1-PHM testing incurs substantial costs and resource utilization. Assay cost is CAD 231.90 per case, amounting to CAD 123,834.60 for 534 cases, with 30 tests needed per additional candidate for MLH1 germline analysis (CAD 6957.00 per candidate). This raises a provocative question: can we assume that the majority of the MLH1-deficient ECs are due to PHM and forgo further testing in healthcare systems with finite resources? It is imperative to assess resource utilization efficiency and explore optimized approaches that encompass clinical correlation, family history and judicious utilization of methylation testing to ensure it is provided only to those who stand to benefit from it. Full article
(This article belongs to the Special Issue Genetics and Epigenetics of Gynecological Cancer)
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