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

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 candid...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/cbb6acef8a0543f6b4e46805a7d21ec0
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spelling	oai:doaj.org-article:cbb6acef8a0543f6b4e46805a7d21ec02021-12-02T18:53:15ZCurrent gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families10.1038/s41523-021-00315-82374-4677https://doaj.org/article/cbb6acef8a0543f6b4e46805a7d21ec02021-08-01T00:00:00Zhttps://doi.org/10.1038/s41523-021-00315-8https://doaj.org/toc/2374-4677Abstract 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.Thibaut S. MatisNadia ZayedBouchra LabrakiManon de LadurantayeThéophane A. MatisJosé Camacho ValenzuelaNancy HamelAdrienne AtayanBarbara RiveraYuval TabachPatricia N. ToninAlexandre OrthweinAnne-Marie Mes-MassonZaki El HaffafWilliam D. FoulkesPaz PolakNature PortfolioarticleNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENnpj Breast Cancer, Vol 7, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 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 Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families
description	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.
format	article
author	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
author_facet	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
author_sort	Thibaut S. Matis
title	Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families
title_short	Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families
title_full	Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families
title_fullStr	Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families
title_full_unstemmed	Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families
title_sort	current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/cbb6acef8a0543f6b4e46805a7d21ec0
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Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families

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