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Title: Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families
Author: Matis, Thibaut S.
Zayed, Nadia
Labraki, Bouchra
Ladurantaye, Manon de
Matis, Théophane A.
Camacho Valenzuela, José
Hamel, Nancy
Atayan, Adrienne
Rivera, Barbara
Tabach, Yuval
Tonin, Patricia N.
Orthwein, Alexandre
Mes Masson, Anne-Marie
El Haffaf, Zaki
Foulkes, William D.
Polak, Paz
Keywords: Càncer de mama
Malalties hereditàries
Breast cancer
Genetic disorders
Issue Date: 25-Aug-2021
Publisher: Springer Science and Business Media LLC
Abstract: 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.
Note: Reproducció del document publicat a:
It is part of: npj Breast Cancer, 2021, vol. 7, num. 1
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ISSN: 2374-4677
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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