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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...

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Autores principales: O’Mara, Tracy A., Crosbie, Emma J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
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.
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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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