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Polygenic risk score opportunities for early detection and prevention strategies in endometrial cancer
Recent large-scale genetic studies, particularly genome-wide association studies (GWAS), have emphasised the importance of common genetic variation in endometrial cancer susceptibility. Although each of these variants only confer modest effects on endometrial cancer risk, together they are likely to...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7524798/ https://www.ncbi.nlm.nih.gov/pubmed/32624578 http://dx.doi.org/10.1038/s41416-020-0959-7 |
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author | O’Mara, Tracy A. Crosbie, Emma J. |
author_facet | O’Mara, Tracy A. Crosbie, Emma J. |
author_sort | O’Mara, Tracy A. |
collection | PubMed |
description | Recent large-scale genetic studies, particularly genome-wide association studies (GWAS), have emphasised the importance of common genetic variation in endometrial cancer susceptibility. Although each of these variants only confer modest effects on endometrial cancer risk, together they are likely to explain a substantial amount of the familial relative risk of the disease. Therefore, methods to combine genetic risk variants, such as polygenic risk scores (PRS) have gained traction as an attractive method for individualised risk prediction and management. Here, we discuss the benefits of a PRS for endometrial cancer and considerations required for clinical implementation. |
format | Online Article Text |
id | pubmed-7524798 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-75247982021-07-06 Polygenic risk score opportunities for early detection and prevention strategies in endometrial cancer O’Mara, Tracy A. Crosbie, Emma J. Br J Cancer Comment Recent large-scale genetic studies, particularly genome-wide association studies (GWAS), have emphasised the importance of common genetic variation in endometrial cancer susceptibility. Although each of these variants only confer modest effects on endometrial cancer risk, together they are likely to explain a substantial amount of the familial relative risk of the disease. Therefore, methods to combine genetic risk variants, such as polygenic risk scores (PRS) have gained traction as an attractive method for individualised risk prediction and management. Here, we discuss the benefits of a PRS for endometrial cancer and considerations required for clinical implementation. Nature Publishing Group UK 2020-07-06 2020-09-29 /pmc/articles/PMC7524798/ /pubmed/32624578 http://dx.doi.org/10.1038/s41416-020-0959-7 Text en © Cancer Research UK 2020 https://creativecommons.org/licenses/by/4.0/Note This work is published under the standard license to publish agreement. After 12 months the work will become freely available and the license terms will switch to a Creative Commons Attribution 4.0 International (CC BY 4.0). |
spellingShingle | Comment O’Mara, Tracy A. Crosbie, Emma J. Polygenic risk score opportunities for early detection and prevention strategies in endometrial cancer |
title | Polygenic risk score opportunities for early detection and prevention strategies in endometrial cancer |
title_full | Polygenic risk score opportunities for early detection and prevention strategies in endometrial cancer |
title_fullStr | Polygenic risk score opportunities for early detection and prevention strategies in endometrial cancer |
title_full_unstemmed | Polygenic risk score opportunities for early detection and prevention strategies in endometrial cancer |
title_short | Polygenic risk score opportunities for early detection and prevention strategies in endometrial cancer |
title_sort | polygenic risk score opportunities for early detection and prevention strategies in endometrial cancer |
topic | Comment |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7524798/ https://www.ncbi.nlm.nih.gov/pubmed/32624578 http://dx.doi.org/10.1038/s41416-020-0959-7 |
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