Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes

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...

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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
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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.
AbstractList	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. 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.
Author	Kutka, Mikolaj Cheung, Alison Shah, Sidrah Sheriff, Matin Boussios, Stergios
AuthorAffiliation	2 Department of Hematology/Medical Oncology, Medway NHS Foundation Trust, Windmill Road, Kent, Gillingham ME7 5NY, UK; alison.cheung2@nhs.net (A.C.); mikolaj.kutka@nhs.net (M.K.) 5 AELIA Organization, 9th Km Thessaloniki-Thermi, 57001 Thessaloniki, Greece 4 King’s College London, Faculty of Life Sciences & Medicine, School of Cancer & Pharmaceutical Sciences, London SE1 9RT, UK 1 Department of Palliative Care, Guy’s and St Thomas’ Hospital, London SE1 9RT, UK; sidrah.shah@nhs.net 3 Department of Urology, Medway NHS Foundation Trust, Windmill Road, Kent, Gillingham ME7 5NY, UK; matin.sheriff@nhs.net
AuthorAffiliation_xml	– name: 2 Department of Hematology/Medical Oncology, Medway NHS Foundation Trust, Windmill Road, Kent, Gillingham ME7 5NY, UK; alison.cheung2@nhs.net (A.C.); mikolaj.kutka@nhs.net (M.K.) – name: 1 Department of Palliative Care, Guy’s and St Thomas’ Hospital, London SE1 9RT, UK; sidrah.shah@nhs.net – name: 5 AELIA Organization, 9th Km Thessaloniki-Thermi, 57001 Thessaloniki, Greece – name: 3 Department of Urology, Medway NHS Foundation Trust, Windmill Road, Kent, Gillingham ME7 5NY, UK; matin.sheriff@nhs.net – name: 4 King’s College London, Faculty of Life Sciences & Medicine, School of Cancer & Pharmaceutical Sciences, London SE1 9RT, UK
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Snippet	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...
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SourceType	Open Access Repository Aggregation Database
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SubjectTerms	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
Title	Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes
URI	https://www.proquest.com/docview/2686033606 https://pubmed.ncbi.nlm.nih.gov/PMC9265838
Volume	19
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