Pathogenic variant profile in DNA damage response genes correlates with metastatic breast cancer progression-free survival in a Mexican-mestizo population

INTRODUCTION: Metastatic breast cancer causes the most breast cancer-related deaths around the world, especially in countries where breast cancer is detected late into its development. Genetic testing for cancer susceptibility started with the BRCA 1 and 2 genes. Still, recent research has shown tha...

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Autores principales: Vázquez-Romo, Rafael, Millan-Catalan, Oliver, Ruíz-García, Erika, Martínez-Gutiérrez, Antonio D., Alvarado-Miranda, Alberto, Campos-Parra, Alma D., López-Camarillo, César, Jacobo-Herrera, Nadia, López-Urrutia, Eduardo, Guardado-Estrada, Mariano, Cantú de León, David, Pérez-Plasencia, Carlos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10174330/
https://www.ncbi.nlm.nih.gov/pubmed/37182128
http://dx.doi.org/10.3389/fonc.2023.1146008
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author Vázquez-Romo, Rafael
Millan-Catalan, Oliver
Ruíz-García, Erika
Martínez-Gutiérrez, Antonio D.
Alvarado-Miranda, Alberto
Campos-Parra, Alma D.
López-Camarillo, César
Jacobo-Herrera, Nadia
López-Urrutia, Eduardo
Guardado-Estrada, Mariano
Cantú de León, David
Pérez-Plasencia, Carlos
author_facet Vázquez-Romo, Rafael
Millan-Catalan, Oliver
Ruíz-García, Erika
Martínez-Gutiérrez, Antonio D.
Alvarado-Miranda, Alberto
Campos-Parra, Alma D.
López-Camarillo, César
Jacobo-Herrera, Nadia
López-Urrutia, Eduardo
Guardado-Estrada, Mariano
Cantú de León, David
Pérez-Plasencia, Carlos
author_sort Vázquez-Romo, Rafael
collection PubMed
description INTRODUCTION: Metastatic breast cancer causes the most breast cancer-related deaths around the world, especially in countries where breast cancer is detected late into its development. Genetic testing for cancer susceptibility started with the BRCA 1 and 2 genes. Still, recent research has shown that variations in other members of the DNA damage response (DDR) are also associated with elevated cancer risk, opening new opportunities for enhanced genetic testing strategies. METHODS: We sequenced BRCA1/2 and twelve other DDR genes from a Mexican-mestizo population of 40 metastatic breast cancer patients through semiconductor sequencing. RESULTS: Overall, we found 22 variants –9 of them reported for the first time– and a strikingly high proportion of variations in ARID1A. The presence of at least one variant in the ARID1A, BRCA1, BRCA2, or FANCA genes was associated with worse progression-free survival and overall survival in our patient cohort. DISCUSSION: Our results reflected the unique characteristics of the Mexican-mestizo population as the proportion of variants we found differed from that of other global populations. Based on these findings, we suggest routine screening for variants in ARID1A along with BRCA1/2 in breast cancer patients from the Mexican-mestizo population.
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spelling pubmed-101743302023-05-12 Pathogenic variant profile in DNA damage response genes correlates with metastatic breast cancer progression-free survival in a Mexican-mestizo population Vázquez-Romo, Rafael Millan-Catalan, Oliver Ruíz-García, Erika Martínez-Gutiérrez, Antonio D. Alvarado-Miranda, Alberto Campos-Parra, Alma D. López-Camarillo, César Jacobo-Herrera, Nadia López-Urrutia, Eduardo Guardado-Estrada, Mariano Cantú de León, David Pérez-Plasencia, Carlos Front Oncol Oncology INTRODUCTION: Metastatic breast cancer causes the most breast cancer-related deaths around the world, especially in countries where breast cancer is detected late into its development. Genetic testing for cancer susceptibility started with the BRCA 1 and 2 genes. Still, recent research has shown that variations in other members of the DNA damage response (DDR) are also associated with elevated cancer risk, opening new opportunities for enhanced genetic testing strategies. METHODS: We sequenced BRCA1/2 and twelve other DDR genes from a Mexican-mestizo population of 40 metastatic breast cancer patients through semiconductor sequencing. RESULTS: Overall, we found 22 variants –9 of them reported for the first time– and a strikingly high proportion of variations in ARID1A. The presence of at least one variant in the ARID1A, BRCA1, BRCA2, or FANCA genes was associated with worse progression-free survival and overall survival in our patient cohort. DISCUSSION: Our results reflected the unique characteristics of the Mexican-mestizo population as the proportion of variants we found differed from that of other global populations. Based on these findings, we suggest routine screening for variants in ARID1A along with BRCA1/2 in breast cancer patients from the Mexican-mestizo population. Frontiers Media S.A. 2023-04-27 /pmc/articles/PMC10174330/ /pubmed/37182128 http://dx.doi.org/10.3389/fonc.2023.1146008 Text en Copyright © 2023 Vázquez-Romo, Millan-Catalan, Ruíz-García, Martínez-Gutiérrez, Alvarado-Miranda, Campos-Parra, López-Camarillo, Jacobo-Herrera, López-Urrutia, Guardado-Estrada, Cantú de León and Pérez-Plasencia https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Vázquez-Romo, Rafael
Millan-Catalan, Oliver
Ruíz-García, Erika
Martínez-Gutiérrez, Antonio D.
Alvarado-Miranda, Alberto
Campos-Parra, Alma D.
López-Camarillo, César
Jacobo-Herrera, Nadia
López-Urrutia, Eduardo
Guardado-Estrada, Mariano
Cantú de León, David
Pérez-Plasencia, Carlos
Pathogenic variant profile in DNA damage response genes correlates with metastatic breast cancer progression-free survival in a Mexican-mestizo population
title Pathogenic variant profile in DNA damage response genes correlates with metastatic breast cancer progression-free survival in a Mexican-mestizo population
title_full Pathogenic variant profile in DNA damage response genes correlates with metastatic breast cancer progression-free survival in a Mexican-mestizo population
title_fullStr Pathogenic variant profile in DNA damage response genes correlates with metastatic breast cancer progression-free survival in a Mexican-mestizo population
title_full_unstemmed Pathogenic variant profile in DNA damage response genes correlates with metastatic breast cancer progression-free survival in a Mexican-mestizo population
title_short Pathogenic variant profile in DNA damage response genes correlates with metastatic breast cancer progression-free survival in a Mexican-mestizo population
title_sort pathogenic variant profile in dna damage response genes correlates with metastatic breast cancer progression-free survival in a mexican-mestizo population
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10174330/
https://www.ncbi.nlm.nih.gov/pubmed/37182128
http://dx.doi.org/10.3389/fonc.2023.1146008
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