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Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/179940
Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families
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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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MATIS, Thibaut S., et al. Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families. npj Breast Cancer. 2021. Vol. 7, num. 1. ISSN 2374-4677. [consulted: 18 of June of 2026]. Available at: https://hdl.handle.net/2445/179940