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

Thibaut S. Matis, Nadia Zayed, Bouchra Labraki, Manon de Ladurantaye, Théophane A. Matis, José Camacho Valenzuela, Nancy Hamel, Adrienne Atayan, Barbara Rivera, Yuval Tabach, Patricia N. Tonin, Alexandre Orthwein, Anne Marie Mes-Masson, Zaki El Haffaf, William D. Foulkes*, Paz Polak*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

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.

Original languageAmerican English
Article number109
Journalnpj Breast Cancer
Volume7
Issue number1
DOIs
StatePublished - 25 Aug 2021

Bibliographical note

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© 2021, The Author(s).

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