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Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families
It was hypothesized that variants in underexplored homologous recombination repair (HR) genes could explain unsolved multiple-case breast cancer (BC) families. We investigated HR deficiency (HRD)-associated mutational signatures and second hits in tumor DNA from familial BC cases. No candidates gene...
| Autores principales: | , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8387362/ https://www.ncbi.nlm.nih.gov/pubmed/34433815 http://dx.doi.org/10.1038/s41523-021-00315-8 |
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| author | Matis, Thibaut S. Zayed, Nadia Labraki, Bouchra de Ladurantaye, Manon Matis, Théophane A. Camacho Valenzuela, José Hamel, Nancy Atayan, Adrienne Rivera, Barbara Tabach, Yuval Tonin, Patricia N. Orthwein, Alexandre Mes-Masson, Anne-Marie El Haffaf, Zaki Foulkes, William D. Polak, Paz |
| author_facet | Matis, Thibaut S. Zayed, Nadia Labraki, Bouchra de Ladurantaye, Manon Matis, Théophane A. Camacho Valenzuela, José Hamel, Nancy Atayan, Adrienne Rivera, Barbara Tabach, Yuval Tonin, Patricia N. Orthwein, Alexandre Mes-Masson, Anne-Marie El Haffaf, Zaki Foulkes, William D. Polak, Paz |
| author_sort | Matis, Thibaut S. |
| collection | PubMed |
| description | It was hypothesized that variants in underexplored homologous recombination repair (HR) genes could explain unsolved multiple-case breast cancer (BC) families. We investigated HR deficiency (HRD)-associated mutational signatures and second hits in tumor DNA from familial BC cases. No candidates genes were associated with HRD in 38 probands previously tested negative with gene panels. We conclude it is unlikely that unknown HRD-associated genes explain a large fraction of unsolved familial BC. |
| format | Online Article Text |
| id | pubmed-8387362 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2021 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-83873622021-09-14 Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families Matis, Thibaut S. Zayed, Nadia Labraki, Bouchra de Ladurantaye, Manon Matis, Théophane A. Camacho Valenzuela, José Hamel, Nancy Atayan, Adrienne Rivera, Barbara Tabach, Yuval Tonin, Patricia N. Orthwein, Alexandre Mes-Masson, Anne-Marie El Haffaf, Zaki Foulkes, William D. Polak, Paz NPJ Breast Cancer Brief Communication It was hypothesized that variants in underexplored homologous recombination repair (HR) genes could explain unsolved multiple-case breast cancer (BC) families. We investigated HR deficiency (HRD)-associated mutational signatures and second hits in tumor DNA from familial BC cases. No candidates genes were associated with HRD in 38 probands previously tested negative with gene panels. We conclude it is unlikely that unknown HRD-associated genes explain a large fraction of unsolved familial BC. Nature Publishing Group UK 2021-08-25 /pmc/articles/PMC8387362/ /pubmed/34433815 http://dx.doi.org/10.1038/s41523-021-00315-8 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access 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 http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
| spellingShingle | Brief Communication Matis, Thibaut S. Zayed, Nadia Labraki, Bouchra de Ladurantaye, Manon Matis, Théophane A. Camacho Valenzuela, José Hamel, Nancy Atayan, Adrienne Rivera, Barbara Tabach, Yuval Tonin, Patricia N. Orthwein, Alexandre Mes-Masson, Anne-Marie El Haffaf, Zaki Foulkes, William D. Polak, Paz Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families |
| title | Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families |
| title_full | Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families |
| title_fullStr | Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families |
| title_full_unstemmed | Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families |
| title_short | Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families |
| title_sort | current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families |
| topic | Brief Communication |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8387362/ https://www.ncbi.nlm.nih.gov/pubmed/34433815 http://dx.doi.org/10.1038/s41523-021-00315-8 |
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