Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families
© 2021. The Author(s)..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:7 |
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| Enthalten in: |
NPJ breast cancer - 7(2021), 1 vom: 25. Aug., Seite 109 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Matis, Thibaut S [VerfasserIn] |
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| Anmerkungen: |
Date Revised 03.04.2024 published: Electronic Citation Status PubMed-not-MEDLINE |
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| doi: |
10.1038/s41523-021-00315-8 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM329769723 |
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| 520 | |a © 2021. The Author(s). | ||
| 520 | |a 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 | ||
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| 700 | 1 | |a Labraki, Bouchra |e verfasserin |4 aut | |
| 700 | 1 | |a de Ladurantaye, Manon |e verfasserin |4 aut | |
| 700 | 1 | |a Matis, Théophane A |e verfasserin |4 aut | |
| 700 | 1 | |a Camacho Valenzuela, José |e verfasserin |4 aut | |
| 700 | 1 | |a Hamel, Nancy |e verfasserin |4 aut | |
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| 700 | 1 | |a Rivera, Barbara |e verfasserin |4 aut | |
| 700 | 1 | |a Tabach, Yuval |e verfasserin |4 aut | |
| 700 | 1 | |a Tonin, Patricia N |e verfasserin |4 aut | |
| 700 | 1 | |a Orthwein, Alexandre |e verfasserin |4 aut | |
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| 700 | 1 | |a Polak, Paz |e verfasserin |4 aut | |
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