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Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM
BACKGROUND: Multigene panel tests for breast cancer predisposition routinely include ATM as it is now a well-established breast cancer predisposition gene. METHODS: We included ATM in a multigene panel test applied to the Australian Breast Cancer Family Registry (ABCFR), a population-based case–cont...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8973562/ https://www.ncbi.nlm.nih.gov/pubmed/35365198 http://dx.doi.org/10.1186/s13058-022-01518-y |
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author | Renault, Anne-Laure Dowty, James G. Steen, Jason A. Li, Shuai Winship, Ingrid M. Giles, Graham G. Hopper, John L. Southey, Melissa C. Nguyen-Dumont, Tú |
author_facet | Renault, Anne-Laure Dowty, James G. Steen, Jason A. Li, Shuai Winship, Ingrid M. Giles, Graham G. Hopper, John L. Southey, Melissa C. Nguyen-Dumont, Tú |
author_sort | Renault, Anne-Laure |
collection | PubMed |
description | BACKGROUND: Multigene panel tests for breast cancer predisposition routinely include ATM as it is now a well-established breast cancer predisposition gene. METHODS: We included ATM in a multigene panel test applied to the Australian Breast Cancer Family Registry (ABCFR), a population-based case–control–family study of breast cancer, with the purpose of estimating the prevalence and penetrance of heterozygous ATM pathogenic variants from the family data, using segregation analysis. RESULTS: The estimated breast cancer hazard ratio for carriers of pathogenic ATM variants in the ABCFR was 1.32 (95% confidence interval 0.45–3.87; P = 0.6). The estimated cumulative risk of breast cancer to age 80 years for heterozygous ATM pathogenic variant carriers was estimated to be 13% (95% CI 4.6–30). CONCLUSIONS: Although ATM has been definitively identified as a breast cancer predisposition gene, further evidence, such as variant-specific penetrance estimates, are needed to inform risk management strategies for carriers of pathogenic variants to increase the clinical utility of population testing of this gene. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13058-022-01518-y. |
format | Online Article Text |
id | pubmed-8973562 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-89735622022-04-02 Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM Renault, Anne-Laure Dowty, James G. Steen, Jason A. Li, Shuai Winship, Ingrid M. Giles, Graham G. Hopper, John L. Southey, Melissa C. Nguyen-Dumont, Tú Breast Cancer Res Short Report BACKGROUND: Multigene panel tests for breast cancer predisposition routinely include ATM as it is now a well-established breast cancer predisposition gene. METHODS: We included ATM in a multigene panel test applied to the Australian Breast Cancer Family Registry (ABCFR), a population-based case–control–family study of breast cancer, with the purpose of estimating the prevalence and penetrance of heterozygous ATM pathogenic variants from the family data, using segregation analysis. RESULTS: The estimated breast cancer hazard ratio for carriers of pathogenic ATM variants in the ABCFR was 1.32 (95% confidence interval 0.45–3.87; P = 0.6). The estimated cumulative risk of breast cancer to age 80 years for heterozygous ATM pathogenic variant carriers was estimated to be 13% (95% CI 4.6–30). CONCLUSIONS: Although ATM has been definitively identified as a breast cancer predisposition gene, further evidence, such as variant-specific penetrance estimates, are needed to inform risk management strategies for carriers of pathogenic variants to increase the clinical utility of population testing of this gene. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13058-022-01518-y. BioMed Central 2022-04-01 2022 /pmc/articles/PMC8973562/ /pubmed/35365198 http://dx.doi.org/10.1186/s13058-022-01518-y Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Short Report Renault, Anne-Laure Dowty, James G. Steen, Jason A. Li, Shuai Winship, Ingrid M. Giles, Graham G. Hopper, John L. Southey, Melissa C. Nguyen-Dumont, Tú Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM |
title | Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM |
title_full | Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM |
title_fullStr | Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM |
title_full_unstemmed | Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM |
title_short | Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM |
title_sort | population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in atm |
topic | Short Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8973562/ https://www.ncbi.nlm.nih.gov/pubmed/35365198 http://dx.doi.org/10.1186/s13058-022-01518-y |
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