Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families

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dc.contributor.authorMatis, Thibaut S.
dc.contributor.authorZayed, Nadia
dc.contributor.authorLabraki, Bouchra
dc.contributor.authorLadurantaye, Manon de
dc.contributor.authorMatis, Théophane A.
dc.contributor.authorCamacho Valenzuela, José
dc.contributor.authorHamel, Nancy
dc.contributor.authorAtayan, Adrienne
dc.contributor.authorRivera, Barbara
dc.contributor.authorTabach, Yuval
dc.contributor.authorTonin, Patricia N.
dc.contributor.authorOrthwein, Alexandre
dc.contributor.authorMes Masson, Anne-Marie
dc.contributor.authorEl Haffaf, Zaki
dc.contributor.authorFoulkes, William D.
dc.contributor.authorPolak, Paz
dc.date.accessioned2021-09-13T06:49:21Z
dc.date.available2021-09-13T06:49:21Z
dc.date.issued2021-08-25
dc.date.updated2021-09-10T10:06:57Z
dc.description.abstractIt 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.
dc.format.extent7 p.
dc.format.mimetypeapplication/pdf
dc.identifier.issn2374-4677
dc.identifier.pmid34433815
dc.identifier.urihttps://hdl.handle.net/2445/179940
dc.language.isoeng
dc.publisherSpringer Science and Business Media LLC
dc.relation.isformatofReproducció del document publicat a: https://doi.org/10.1038/s41523-021-00315-8
dc.relation.ispartofnpj Breast Cancer, 2021, vol. 7, num. 1
dc.relation.urihttps://doi.org/10.1038/s41523-021-00315-8
dc.rightscc by (c) Matis, Thibaut S. et al, 2021
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/es/*
dc.sourceArticles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
dc.subject.classificationCàncer de mama
dc.subject.classificationMalalties hereditàries
dc.subject.otherBreast cancer
dc.subject.otherGenetic disorders
dc.titleCurrent gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion

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