Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.
Journal
NPJ breast cancer
ISSN: 2374-4677
Titre abrégé: NPJ Breast Cancer
Pays: United States
ID NLM: 101674891
Informations de publication
Date de publication:
25 Aug 2021
25 Aug 2021
Historique:
received:
12
02
2021
accepted:
26
07
2021
entrez:
26
8
2021
pubmed:
27
8
2021
medline:
27
8
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34433815
doi: 10.1038/s41523-021-00315-8
pii: 10.1038/s41523-021-00315-8
pmc: PMC8387362
doi:
Types de publication
Journal Article
Langues
eng
Pagination
109Subventions
Organisme : Cancer Research Society (Société de Recherche sur le Cancer)
ID : OG-24377
Informations de copyright
© 2021. The Author(s).
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