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Epithelial ovarian cancer risk: A review of the current genetic landscape
Ovarian cancer is the fourth most common cause of cancer‐related death in women in the developed world, and one of the most heritable cancers. One of the most significant risk factors for epithelial ovarian cancer (EOC) is a family history of breast and/or ovarian cancer. Combined risk factors can b...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Blackwell Publishing Ltd
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017781/ https://www.ncbi.nlm.nih.gov/pubmed/31099061 http://dx.doi.org/10.1111/cge.13566 |
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author | Flaum, Nicola Crosbie, Emma J. Edmondson, Richard J. Smith, Miriam J. Evans, Dafydd G. |
author_facet | Flaum, Nicola Crosbie, Emma J. Edmondson, Richard J. Smith, Miriam J. Evans, Dafydd G. |
author_sort | Flaum, Nicola |
collection | PubMed |
description | Ovarian cancer is the fourth most common cause of cancer‐related death in women in the developed world, and one of the most heritable cancers. One of the most significant risk factors for epithelial ovarian cancer (EOC) is a family history of breast and/or ovarian cancer. Combined risk factors can be used in models to stratify risk of EOC, and aid in decisions regarding risk‐reduction strategies. Germline pathogenic variants in EOC susceptibility genes including those involved in homologous recombination and mismatch repair pathways are present in approximately 22% to 25% of EOC. These genes are associated with an estimated lifetime risk of EOC of 13% to 60% for BRCA1 variants and 10% to 25% for BRCA2 variants, with lower risks associated with remaining genes. Genome‐wide association studies have identified single nucleotide polymorphisms (SNPs) thought to explain an additional 6.4% of the familial risk of ovarian cancer, with 34 susceptibility loci identified to date. However, an unknown proportion of the genetic component of EOC risk remains unexplained. This review comprises an overview of individual genes and SNPs suspected to contribute to risk of EOC, and discusses use of a polygenic risk score to predict individual cancer risk more accurately. |
format | Online Article Text |
id | pubmed-7017781 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Blackwell Publishing Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-70177812020-02-20 Epithelial ovarian cancer risk: A review of the current genetic landscape Flaum, Nicola Crosbie, Emma J. Edmondson, Richard J. Smith, Miriam J. Evans, Dafydd G. Clin Genet Reviews Ovarian cancer is the fourth most common cause of cancer‐related death in women in the developed world, and one of the most heritable cancers. One of the most significant risk factors for epithelial ovarian cancer (EOC) is a family history of breast and/or ovarian cancer. Combined risk factors can be used in models to stratify risk of EOC, and aid in decisions regarding risk‐reduction strategies. Germline pathogenic variants in EOC susceptibility genes including those involved in homologous recombination and mismatch repair pathways are present in approximately 22% to 25% of EOC. These genes are associated with an estimated lifetime risk of EOC of 13% to 60% for BRCA1 variants and 10% to 25% for BRCA2 variants, with lower risks associated with remaining genes. Genome‐wide association studies have identified single nucleotide polymorphisms (SNPs) thought to explain an additional 6.4% of the familial risk of ovarian cancer, with 34 susceptibility loci identified to date. However, an unknown proportion of the genetic component of EOC risk remains unexplained. This review comprises an overview of individual genes and SNPs suspected to contribute to risk of EOC, and discusses use of a polygenic risk score to predict individual cancer risk more accurately. Blackwell Publishing Ltd 2019-05-29 2020-01 /pmc/articles/PMC7017781/ /pubmed/31099061 http://dx.doi.org/10.1111/cge.13566 Text en © 2019 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Reviews Flaum, Nicola Crosbie, Emma J. Edmondson, Richard J. Smith, Miriam J. Evans, Dafydd G. Epithelial ovarian cancer risk: A review of the current genetic landscape |
title | Epithelial ovarian cancer risk: A review of the current genetic landscape |
title_full | Epithelial ovarian cancer risk: A review of the current genetic landscape |
title_fullStr | Epithelial ovarian cancer risk: A review of the current genetic landscape |
title_full_unstemmed | Epithelial ovarian cancer risk: A review of the current genetic landscape |
title_short | Epithelial ovarian cancer risk: A review of the current genetic landscape |
title_sort | epithelial ovarian cancer risk: a review of the current genetic landscape |
topic | Reviews |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017781/ https://www.ncbi.nlm.nih.gov/pubmed/31099061 http://dx.doi.org/10.1111/cge.13566 |
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