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

doi:10.1038/s41523-021-00315-8

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

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4 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 language	English
Article number	109
Journal	npj Breast Cancer
Volume	7
Issue number	1
DOIs	https://doi.org/10.1038/s41523-021-00315-8
State	Published - Dec 2021
Externally published	Yes

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Matis, T. S., Zayed, N., Labraki, B., de Ladurantaye, M., Matis, T. A., Camacho Valenzuela, J., Hamel, N., Atayan, A., Rivera, B., Tabach, Y., Tonin, P. N., Orthwein, A., Mes-Masson, A. M., El Haffaf, Z., Foulkes, W. D., & Polak, P. (2021). Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families. npj Breast Cancer, 7(1), Article 109. https://doi.org/10.1038/s41523-021-00315-8

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title = "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 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.",

author = "Matis, {Thibaut S.} and Nadia Zayed and Bouchra Labraki and {de Ladurantaye}, Manon and Matis, {Th{\'e}ophane A.} and {Camacho Valenzuela}, Jos{\'e} and Nancy Hamel and Adrienne Atayan and Barbara Rivera and Yuval Tabach and Tonin, {Patricia N.} and Alexandre Orthwein and Mes-Masson, {Anne Marie} and {El Haffaf}, Zaki and Foulkes, {William D.} and Paz Polak",

note = "Publisher Copyright: {\textcopyright} 2021, The Author(s).",

year = "2021",

month = dec,

doi = "10.1038/s41523-021-00315-8",

language = "English",

volume = "7",

journal = "npj Breast Cancer",

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Matis, TS, Zayed, N, Labraki, B, de Ladurantaye, M, Matis, TA, Camacho Valenzuela, J, Hamel, N, Atayan, A, Rivera, B, Tabach, Y, Tonin, PN, Orthwein, A, Mes-Masson, AM, El Haffaf, Z, Foulkes, WD & Polak, P 2021, 'Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families', npj Breast Cancer, vol. 7, no. 1, 109. https://doi.org/10.1038/s41523-021-00315-8

TY - JOUR

T1 - Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families

AU - Matis, Thibaut S.

AU - Zayed, Nadia

AU - Labraki, Bouchra

AU - de Ladurantaye, Manon

AU - Matis, Théophane A.

AU - Camacho Valenzuela, José

AU - Hamel, Nancy

AU - Atayan, Adrienne

AU - Rivera, Barbara

AU - Tabach, Yuval

AU - Tonin, Patricia N.

AU - Orthwein, Alexandre

AU - Mes-Masson, Anne Marie

AU - El Haffaf, Zaki

AU - Foulkes, William D.

AU - Polak, Paz

PY - 2021/12

Y1 - 2021/12

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85113368180&partnerID=8YFLogxK

U2 - 10.1038/s41523-021-00315-8

DO - 10.1038/s41523-021-00315-8

M3 - Article

AN - SCOPUS:85113368180

SN - 2374-4677

VL - 7

JO - npj Breast Cancer

JF - npj Breast Cancer

IS - 1

M1 - 109

ER -

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

Abstract

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