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Advances in understanding the molecular pathology of gynecological malignancies: the role and potential of RNA sequencing
  1. Alba Southern1 and
  2. Mona El-Bahrawy2,3
  1. 1 Surgery and Cancer, Imperial College London, London, UK
  2. 2 Metabolism, Digestion and Reproduction, Imperial College London, London, UK
  3. 3 Pathology, Alexandria University Faculty of Medicine, Alexandria, Egypt
  1. Correspondence to Professor Mona El-Bahrawy, Metabolism, Digestion and Reproduction, Imperial College London, DuCane Road, UK; m.elbahrawy{at}


For many years technological limitations restricted the progress of identifying the underlying genetic causes of gynecologicalcancers. However, during the past decade, high-throughput next-generation sequencing technologies have revolutionized cancer research. RNA sequencing has arisen as a very useful technique in expanding our understanding of genome changes in cancer. Cancer is characterized by the accumulation of genetic alterations affecting genes, including substitutions, insertions, deletions, translocations, gene fusions, and alternative splicing. If these aberrant genes become transcribed, aberrations can be detected by RNA sequencing, which will also provide information on the transcript abundance revealing the expression levels of the aberrant genes. RNA sequencing is considered the technique of choice when studying gene expression and identifying new RNA species. This is due to the quantitative and qualitative improvement that it has brought to transcriptome analysis, offering a resolution that allows research into different layers of transcriptome complexity. It has also been successful in identifying biomarkers, fusion genes, tumor suppressors, and uncovering new targets responsible for drug resistance in gynecological cancers. To illustrate that we here review the role of RNA sequencing in studies that enhanced our understanding of the molecular pathology of gynecological cancers.

  • gynecology
  • neoplasms

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  • Contributors Alba Southern wrote the manuscript. Prof. Mona El-Bahrawy conceptualized the idea and design of the review and revised the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial, or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.