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BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years
BACKGROUND: Triple-negative (TN) tumours are the predominant breast cancer subtype in BRCA1 mutation carriers. Recently, it was proposed that all individuals below 50 years of age with TN breast cancer should be offered BRCA testing. We have evaluated the BRCA1 mutation frequency and the implication...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3304410/ https://www.ncbi.nlm.nih.gov/pubmed/22333603 http://dx.doi.org/10.1038/bjc.2012.31 |
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author | Robertson, L Hanson, H Seal, S Warren-Perry, M Hughes, D Howell, I Turnbull, C Houlston, R Shanley, S Butler, S Evans, D G Ross, G Eccles, D Tutt, A Rahman, N |
author_facet | Robertson, L Hanson, H Seal, S Warren-Perry, M Hughes, D Howell, I Turnbull, C Houlston, R Shanley, S Butler, S Evans, D G Ross, G Eccles, D Tutt, A Rahman, N |
author_sort | Robertson, L |
collection | PubMed |
description | BACKGROUND: Triple-negative (TN) tumours are the predominant breast cancer subtype in BRCA1 mutation carriers. Recently, it was proposed that all individuals below 50 years of age with TN breast cancer should be offered BRCA testing. We have evaluated the BRCA1 mutation frequency and the implications for clinical practice of undertaking genetic testing in women with TN breast cancer. METHODS: We undertook BRCA1 mutation analysis in 308 individuals with TN breast cancer, 159 individuals from unselected series of breast cancer and 149 individuals from series ascertained on the basis of young age and/or family history. RESULTS: BRCA1 mutations were present in 45 out of 308 individuals. Individuals with TN cancer <50 years had >10% likelihood of carrying a BRCA1 mutation in both the unselected (11 out of 58, 19%) and selected (26 out of 111, 23%) series. However, over a third would not have been offered testing using existing criteria. We estimate that testing all individuals with TN breast cancer <50 years would generate an extra 1200 tests annually in England. CONCLUSION: Women with TN breast cancer diagnosed below 50 years have >10% likelihood of carrying a BRCA1 mutation and are therefore eligible for testing in most centres. However, implementation may place short-term logistical and financial burdens on genetic services. |
format | Online Article Text |
id | pubmed-3304410 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-33044102013-03-13 BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years Robertson, L Hanson, H Seal, S Warren-Perry, M Hughes, D Howell, I Turnbull, C Houlston, R Shanley, S Butler, S Evans, D G Ross, G Eccles, D Tutt, A Rahman, N Br J Cancer Genetics and Genomics BACKGROUND: Triple-negative (TN) tumours are the predominant breast cancer subtype in BRCA1 mutation carriers. Recently, it was proposed that all individuals below 50 years of age with TN breast cancer should be offered BRCA testing. We have evaluated the BRCA1 mutation frequency and the implications for clinical practice of undertaking genetic testing in women with TN breast cancer. METHODS: We undertook BRCA1 mutation analysis in 308 individuals with TN breast cancer, 159 individuals from unselected series of breast cancer and 149 individuals from series ascertained on the basis of young age and/or family history. RESULTS: BRCA1 mutations were present in 45 out of 308 individuals. Individuals with TN cancer <50 years had >10% likelihood of carrying a BRCA1 mutation in both the unselected (11 out of 58, 19%) and selected (26 out of 111, 23%) series. However, over a third would not have been offered testing using existing criteria. We estimate that testing all individuals with TN breast cancer <50 years would generate an extra 1200 tests annually in England. CONCLUSION: Women with TN breast cancer diagnosed below 50 years have >10% likelihood of carrying a BRCA1 mutation and are therefore eligible for testing in most centres. However, implementation may place short-term logistical and financial burdens on genetic services. Nature Publishing Group 2012-03-13 2012-02-14 /pmc/articles/PMC3304410/ /pubmed/22333603 http://dx.doi.org/10.1038/bjc.2012.31 Text en Copyright © 2012 Cancer Research UK https://creativecommons.org/licenses/by/4.0/This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material.If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit https://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Genetics and Genomics Robertson, L Hanson, H Seal, S Warren-Perry, M Hughes, D Howell, I Turnbull, C Houlston, R Shanley, S Butler, S Evans, D G Ross, G Eccles, D Tutt, A Rahman, N BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years |
title | BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years |
title_full | BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years |
title_fullStr | BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years |
title_full_unstemmed | BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years |
title_short | BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years |
title_sort | brca1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years |
topic | Genetics and Genomics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3304410/ https://www.ncbi.nlm.nih.gov/pubmed/22333603 http://dx.doi.org/10.1038/bjc.2012.31 |
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