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http://hdl.handle.net/2445/179940| Title: | Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families |
| Author: | Matis, Thibaut S. Zayed, Nadia Labraki, Bouchra Ladurantaye, Manon de 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 |
| Keywords: | Càncer de mama Malalties hereditàries Breast cancer Genetic disorders |
| Issue Date: | 25-Aug-2021 |
| Publisher: | Springer Science and Business Media LLC |
| Abstract: | 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. |
| Note: | Reproducció del document publicat a: https://doi.org/10.1038/s41523-021-00315-8 |
| It is part of: | npj Breast Cancer, 2021, vol. 7, num. 1 |
| URI: | http://hdl.handle.net/2445/179940 |
| Related resource: | https://doi.org/10.1038/s41523-021-00315-8 |
| ISSN: | 2374-4677 |
| Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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| File | Description | Size | Format | |
|---|---|---|---|---|
| s41523-021-00315-8.pdf | 1.11 MB | Adobe PDF | View/Open |
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