Special Issue "Frontiers in Genetics and Genomics of Ovarian Cancer"

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 15 December 2021.

Special Issue Editor

Dr. Sohyun Hwang
E-Mail Website
Guest Editor
1. Department of Pathology, CHA Bundang Medical Center, CHA University, Sungnam-si, Gyeonggi-do, Korea
2. Department of Biomedical Science, Colledge of Life Science, CHA University, Sungnam-si, Gyeonggi-do, Korea
Interests: high-grade serous ovarian carcinoma; genome instability; DNA damage repair; cellular senescence; homologous recombination deficiency; 3D chromosomal organization

Special Issue Information

Dear Colleagues,

Ovarian cancer is a leading cause of death among patients with gynecological malignancies and the majority of ovarian cancer cases are high-grade serous carcinomas (HGSCs). Current estimates indicated that women with germline mutations in BRCA1 or BRCA2 have a 30% to 70% chance of developing ovarian cancer and TP53 mutation is clearly an early event in developing HGSCs. The Cancer Genome Atlas (TCGA) also reported that mutations in TP53 are present in more than 96% of HGSCs and homologous recombination (HR) deficiency (e.g. BRCA1 or BRCA2) is present in approximately 50% of the patients. This means that the other half of HGSCs have no apparent defect in HR. Moreover, HGSC is one of the most chromosamally variant malignancies (i.e., genome instability). CCNE1 amplification, RB1 loss and NF1 loss are frequently observed in HGSC.

In this era of targeted therapy, to reduce incidence and improve outcomes in HGSC, precise molecular characterization of HGSC from individual patients is very important. We need to understand the genetics and genomics of HGSC in a holistic way by considering several molecular pathways such as HR deficiency, P53 aberration, DNA damage repair, cellular senescence, immune evasion, DNA replication stress, genome instability and its epigenetic regulation. We also hope that 3D chromosome organization will provide new insights into the molecular mechanism of its chromosomal aberration and help in the identification of its new therapeutic targets.

 In this Special Issue of Genes on “Genetics and Genomics of Ovarian Cancer”, we welcome reviews, mini-reviews, new methods, and original research articles that advance our understanding of ovarian cancers. While the new insights driven by 3D chromosome organization on molecular mechanisms or pathways related to HGSC—such as P53 aberration, cellular senescence, immune evasion, and genome instability—will be of special interest, we will also be open to any topic that advances the understanding of ovarian cancers to develop a better therapeutic method.

Dr. Sohyun Hwang
Guest Editor

Manuscript Submission Information

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Keywords

  • high-grade serous ovarian carcinoma
  • genome instability
  • homologous recombination deficiency
  • P53 aberration
  • DNA damage repair
  • cellular senescence
  • PARP inhibitor
  • DNA replication stress
  • epigenetic regulation
  • 3D genome

Published Papers (2 papers)

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Research

Article
Classification of High-Grade Serous Ovarian Carcinoma by Epithelial-to-Mesenchymal Transition Signature and Homologous Recombination Repair Genes
Genes 2021, 12(7), 1103; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12071103 - 20 Jul 2021
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Abstract
High-grade serous ovarian cancer (HGSOC) is one of the deadliest cancers that can occur in women. This study aimed to investigate the molecular characteristics of HGSOC through integrative analysis of multi-omics data. We used fresh-frozen, chemotherapy-naïve primary ovarian cancer tissues and matched blood [...] Read more.
High-grade serous ovarian cancer (HGSOC) is one of the deadliest cancers that can occur in women. This study aimed to investigate the molecular characteristics of HGSOC through integrative analysis of multi-omics data. We used fresh-frozen, chemotherapy-naïve primary ovarian cancer tissues and matched blood samples of HGSOC patients and conducted next-generation whole-exome sequencing (WES) and RNA sequencing (RNA-seq). Genomic and transcriptomic profiles were comprehensively compared between patients with germline BRCA1/2 mutations and others with wild-type BRCA1/2. HGSOC samples initially divided into two groups by the presence of germline BRCA1/2 mutations showed mutually exclusive somatic mutation patterns, yet the implementation of high-dimensional analysis of RNA-seq and application of epithelial-to-mesenchymal (EMT) index onto the HGSOC samples revealed that they can be divided into two subtypes; homologous recombination repair (HRR)-activated type and mesenchymal type. Patients with mesenchymal HGSOC, characterized by the activation of the EMT transcriptional program, low genomic alteration and diverse cell-type compositions, exhibited significantly worse overall survival than did those with HRR-activated HGSOC (p = 0.002). In validation with The Cancer Genome Atlas (TCGA) HGSOC data, patients with a high EMT index (≥the median) showed significantly worse overall survival than did those with a low EMT index (<the median) (p = 0.030). In conclusion, through a comprehensive multi-omics approach towards our HGSOC cohorts, two distinctive types of HGSOC (HRR-activated and mesenchymal) were identified. Our novel EMT index seems to be a potential prognostic biomarker for HGSOC. Full article
(This article belongs to the Special Issue Frontiers in Genetics and Genomics of Ovarian Cancer)
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Article
MET Expression and Cancer Stem Cell Networks Impact Outcome in High-Grade Serous Ovarian Cancer
Genes 2021, 12(5), 742; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12050742 - 14 May 2021
Viewed by 667
Abstract
Overexpression of the receptor tyrosine kinase MET has been linked to poor survival in several cancer types, and MET has been suggested to interact with stem cell networks. In vitro studies have further suggested a possible benefit of a combined treatment using PARP [...] Read more.
Overexpression of the receptor tyrosine kinase MET has been linked to poor survival in several cancer types, and MET has been suggested to interact with stem cell networks. In vitro studies have further suggested a possible benefit of a combined treatment using PARP and MET inhibitors. We used a tissue microarray (TMA) with 130 samples of advanced-stage high-grade serous fallopian tube/ovarian cancer (HGSC) to investigate the prognostic value of MET protein expression alone and in combination with the stem cell factor SOX2. The possible synergistic effects of a PARP and MET inhibitor treatment were evaluated in two cell lines with BRCA1 or BRCA2 deficiency and in their BRCA1/2-proficient counterparts. Patients with tumors positive for MET had worse overall survival (log-rank test, p = 0.015) compared to patients with MET-negative tumors. The prognostic role of MET was even more prominent in the subgroup of patients with SOX2-negative tumors (p = 0.0081). No synergistic effects of the combined treatment with PARP and MET inhibitors were found in the cell lines examined. We conclude that MET expression could be used as a marker for OS in HGSC and that stemness should be taken into consideration when evaluating the mechanisms of this effect. Full article
(This article belongs to the Special Issue Frontiers in Genetics and Genomics of Ovarian Cancer)
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