Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes

• Published in: International journal of environmental research and public health Vol. 19; no. 13; p. 8113
• Main Authors: Shah, Sidrah, Cheung, Alison, Kutka, Mikolaj, Sheriff, Matin, Boussios, Stergios
• Format: Journal Article
• Language: English
• Published: Basel MDPI AG 01-07-2022; MDPI
• Subjects: Adenosine diphosphate; Apoptosis; BRCA1 protein; BRCA2 protein; Breast cancer; Cancer therapies; Chemotherapy; DNA damage; DNA repair; Genes; Genetic screening; Histology; Homologous recombination; Homology; Kinases; Medical prognosis; Mismatch repair; Mutation; Next-generation sequencing; Ovarian cancer; Ovarian carcinoma; Poly(ADP-ribose); Poly(ADP-ribose) polymerase; Proteins; Review; Ribose; Risk assessment; Surgery; Tumors; Womens health
• ISSN: 1660-4601; 1661-7827; 1660-4601
• DOI: 10.3390/ijerph19138113

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.