Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes

Sidrah Shah, Alison Cheung, Mikolaj Kutka, Matin Sheriff and Stergios Boussios
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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

IJERPH, 2022, vol. 19, issue 13, 1-14

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.

Keywords: ovarian cancer; hereditary; BRCA1/2 genes; poly(ADP-ribose) polymerase (PARP) inhibitors; next-generation sequencing (NGS) (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
References: View references in EconPapers View complete reference list from CitEc
Citations: View citations in EconPapers (2)

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