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Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity!
Since the identification of BRCA1 and BRCA2 genes 3 decades ago, genetic testing and genetic counseling have become an integral part of routine clinical practice. The risk of breast cancer among carriers of germline pathogenic variants, like BRCA1 and BRCA2, is well established. Risk-reducing interv...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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PAGEPress Publications, Pavia, Italy
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8256373/ https://www.ncbi.nlm.nih.gov/pubmed/34267891 http://dx.doi.org/10.4081/oncol.2021.544 |
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author | Abdel-Razeq, Hikmat |
author_facet | Abdel-Razeq, Hikmat |
author_sort | Abdel-Razeq, Hikmat |
collection | PubMed |
description | Since the identification of BRCA1 and BRCA2 genes 3 decades ago, genetic testing and genetic counseling have become an integral part of routine clinical practice. The risk of breast cancer among carriers of germline pathogenic variants, like BRCA1 and BRCA2, is well established. Risk-reducing interventions, including bilateral mastectomies and salpingo-oophorectomies are both effective and have become more acceptable. Many researchers and professional societies view current guidelines as restrictive and may miss many at-risk women, and are calling to expand testing to include all patients with breast cancer, regardless of their personal or family history of cancer, while others are calling for wider adoption to even include all healthy women at age 30 or older. This review will address expanding testing in two directions; horizontally to include more patients, and even healthy women, and vertically to include more genes using next-generation sequencing-based multi-gene panel testing. |
format | Online Article Text |
id | pubmed-8256373 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | PAGEPress Publications, Pavia, Italy |
record_format | MEDLINE/PubMed |
spelling | pubmed-82563732021-07-14 Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity! Abdel-Razeq, Hikmat Oncol Rev Review Since the identification of BRCA1 and BRCA2 genes 3 decades ago, genetic testing and genetic counseling have become an integral part of routine clinical practice. The risk of breast cancer among carriers of germline pathogenic variants, like BRCA1 and BRCA2, is well established. Risk-reducing interventions, including bilateral mastectomies and salpingo-oophorectomies are both effective and have become more acceptable. Many researchers and professional societies view current guidelines as restrictive and may miss many at-risk women, and are calling to expand testing to include all patients with breast cancer, regardless of their personal or family history of cancer, while others are calling for wider adoption to even include all healthy women at age 30 or older. This review will address expanding testing in two directions; horizontally to include more patients, and even healthy women, and vertically to include more genes using next-generation sequencing-based multi-gene panel testing. PAGEPress Publications, Pavia, Italy 2021-06-24 /pmc/articles/PMC8256373/ /pubmed/34267891 http://dx.doi.org/10.4081/oncol.2021.544 Text en ©Copyright: the Author(s) https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution Noncommercial License (by-nc 4.0) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited. |
spellingShingle | Review Abdel-Razeq, Hikmat Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity! |
title | Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity! |
title_full | Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity! |
title_fullStr | Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity! |
title_full_unstemmed | Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity! |
title_short | Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity! |
title_sort | expanding the search for germline pathogenic variants for breast cancer. how far should we go and how high should we jump? the missed opportunity! |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8256373/ https://www.ncbi.nlm.nih.gov/pubmed/34267891 http://dx.doi.org/10.4081/oncol.2021.544 |
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