Autor: |
Thibaut S. Matis, Nadia Zayed, Bouchra Labraki, Manon de Ladurantaye, Théophane A. Matis, José Camacho Valenzuela, Nancy Hamel, Adrienne Atayan, Barbara Rivera, Yuval Tabach, Patricia N. Tonin, Alexandre Orthwein, Anne-Marie Mes-Masson, Zaki El Haffaf, William D. Foulkes, Paz Polak |
Jazyk: |
angličtina |
Rok vydání: |
2021 |
Předmět: |
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Zdroj: |
npj Breast Cancer, Vol 7, Iss 1, Pp 1-7 (2021) |
Druh dokumentu: |
article |
ISSN: |
2374-4677 |
DOI: |
10.1038/s41523-021-00315-8 |
Popis: |
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. |
Databáze: |
Directory of Open Access Journals |
Externí odkaz: |
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