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Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes

Author

Listed:
  • Sidrah Shah

    (Department of Palliative Care, Guy’s and St Thomas’ Hospital, London SE1 9RT, UK)

  • Alison Cheung

    (Department of Hematology/Medical Oncology, Medway NHS Foundation Trust, Windmill Road, Kent, Gillingham ME7 5NY, UK)

  • Mikolaj Kutka

    (Department of Hematology/Medical Oncology, Medway NHS Foundation Trust, Windmill Road, Kent, Gillingham ME7 5NY, UK)

  • Matin Sheriff

    (Department of Urology, Medway NHS Foundation Trust, Windmill Road, Kent, Gillingham ME7 5NY, UK)

  • Stergios Boussios

    (Department of Palliative Care, Guy’s and St Thomas’ Hospital, London SE1 9RT, UK
    King’s College London, Faculty of Life Sciences & Medicine, School of Cancer & Pharmaceutical Sciences, London SE1 9RT, UK
    AELIA Organization, 9th Km Thessaloniki-Thermi, 57001 Thessaloniki, Greece)

Abstract

Epithelial ovarian cancer (EOC) is one of the cancers most influenced by hereditary factors. A fourth to a fifth of unselected EOC patients carry pathogenic variants (PVs) in a number of genes, the majority of which encode for proteins involved in DNA mismatch repair (MMR) pathways. PVs in BRCA1 and BRCA2 genes are responsible for a substantial fraction of hereditary EOC. In addition, PV genes involved in the MMR pathway account for 10–15% of hereditary EOC. The identification of women with homologous recombination (HR)-deficient EOCs has significant clinical implications, concerning chemotherapy regimen planning and development as well as the use of targeted therapies such as poly(ADP-ribose) polymerase (PARP) inhibitors. With several genes involved, the complexity of genetic testing increases. In this context, next-generation sequencing (NGS) allows testing for multiple genes simultaneously with a rapid turnaround time. In this review, we discuss the EOC risk assessment in the era of NGS.

Suggested Citation

  • Sidrah Shah & Alison Cheung & Mikolaj Kutka & Matin Sheriff & Stergios Boussios, 2022. "Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes," IJERPH, MDPI, vol. 19(13), pages 1-14, July.
    • Handle: RePEc:gam:jijerp:v:19:y:2022:i:13:p:8113-:d:854056
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    References listed on IDEAS

    as
    1. J. S. de Bono & Alan Ashworth, 2010. "Translating cancer research into targeted therapeutics," Nature, Nature, vol. 467(7315), pages 543-549, September.
    2. Alison Cheung & Sidrah Shah & Jack Parker & Pavandeep Soor & Anu Limbu & Matin Sheriff & Stergios Boussios, 2022. "Non-Epithelial Ovarian Cancers: How Much Do We Really Know?," IJERPH, MDPI, vol. 19(3), pages 1-18, January.
    3. Helen E. Bryant & Niklas Schultz & Huw D. Thomas & Kayan M. Parker & Dan Flower & Elena Lopez & Suzanne Kyle & Mark Meuth & Nicola J. Curtin & Thomas Helleday, 2005. "Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase," Nature, Nature, vol. 434(7035), pages 913-917, April.
    4. Stephen P. Jackson & Jiri Bartek, 2009. "The DNA-damage response in human biology and disease," Nature, Nature, vol. 461(7267), pages 1071-1078, October.
    5. Hannah Farmer & Nuala McCabe & Christopher J. Lord & Andrew N. J. Tutt & Damian A. Johnson & Tobias B. Richardson & Manuela Santarosa & Krystyna J. Dillon & Ian Hickson & Charlotte Knights & Niall M. , 2005. "Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy," Nature, Nature, vol. 434(7035), pages 917-921, April.
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    Cited by:

    1. Iqra Saani & Nitish Raj & Raja Sood & Shahbaz Ansari & Haider Abbas Mandviwala & Elisabet Sanchez & Stergios Boussios, 2023. "Clinical Challenges in the Management of Malignant Ovarian Germ Cell Tumours," IJERPH, MDPI, vol. 20(12), pages 1-16, June.
    2. Aruni Ghose & Anita Bolina & Ishika Mahajan & Syed Ahmer Raza & Miranda Clarke & Abhinanda Pal & Elisabet Sanchez & Kathrine Sofia Rallis & Stergios Boussios, 2022. "Hereditary Ovarian Cancer: Towards a Cost-Effective Prevention Strategy," IJERPH, MDPI, vol. 19(19), pages 1-18, September.

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