Journal
NPJ BREAST CANCER
Volume 7, Issue 1, Pages -Publisher
NATURE PORTFOLIO
DOI: 10.1038/s41523-021-00315-8
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Funding
- Quebec Breast Cancer Foundation (QBCF)
- Banque de tissus et de donnees of the Reseau de recherche sur le cancer of the Fonds de recherche du Quebec Sante (FRQS)
- Israel Science Foundation
- CCSRI Innovation Grant
- Canada Research Chair Tier 2 in Genome Stability and Hematological Malignancies
- Jimmy V foundation scholar award
- Canadian Tumor Repository Network (CTRNet)
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The study found that variants in underexplored homologous recombination repair (HR) genes are unlikely to explain a large fraction of unsolved multiple-case breast cancer (BC) families, providing limited help in solving familial BC cases.
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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