Somatic Mutations in Latin American Breast Cancer Patients: A Systematic Review and Meta-Analysis

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(1) Background: Somatic mutations may be connected to the exposome, potentially playing a role in breast cancer’s development and clinical outcomes. There needs to be information regarding Latin American women specifically, as they are underrepresented in clinical trials and have limited access to s...

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Autores: Martínez-Nava, GA, Urbina-Jara, LK, Lira-Albarrán, S, Gómez, HL, Ruiz-García, E, Nieto-Coronel, MT, Ortiz-Lopez, R, Martínez, Villalba, KN, Muñoz-Sánchez, M, Aguilar, D, Gómez-Flores-Ramos, L, Cabrera-Nieto, SA, Mohar, A, Cruz-Ramos, M
Formato: revisión
Fecha de Publicación:2024
Institución:Instituto Nacional de Enfermedades Neoplásicas
Repositorio:INEN-Institucional
Lenguaje:inglés
OAI Identifier:oai:repositorio.inen.sld.pe:20.500.14703/431
Enlace del recurso:https: //doi.org/10.3390/diagnostics14030287
https://hdl.handle.net/20.500.14703/431
Nivel de acceso:acceso abierto
Materia:breast cancer
exposome
Latin America
somatic mutation
target therapy
https://purl.org/pe-repo/ocde/ford#3.02.21
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spelling PublicationMartínez-Nava, GAUrbina-Jara, LKLira-Albarrán, SGómez, HLRuiz-García, ENieto-Coronel, MTOrtiz-Lopez, RMartínez, Villalba, KNMuñoz-Sánchez, MAguilar, DGómez-Flores-Ramos, LCabrera-Nieto, SAMohar, ACruz-Ramos, M2025-07-02T17:30:13Z2025-07-02T17:30:13Z2024https: //doi.org/10.3390/diagnostics14030287https://hdl.handle.net/20.500.14703/431Diagnostics(1) Background: Somatic mutations may be connected to the exposome, potentially playing a role in breast cancer’s development and clinical outcomes. There needs to be information regarding Latin American women specifically, as they are underrepresented in clinical trials and have limited access to somatic analysis in their countries. This study aims to systematically investigate somatic mutations in breast cancer patients from Latin America to gain a better understanding of tumor biology in the region. (2) Methods: We realize a systematic review of studies on breast cancer in 21 Latin American countries using various databases such as PubMed, Google Scholar, Web of Science, RedAlyc, Dianlet, and Biblioteca Virtual en Salud. Of 392 articles that fit the criteria, 10 studies have clinical data which can be used to create a database containing clinical and genetic information. We compared mutation frequencies across different breast cancer subtypes using statistical analyses and meta-analyses of proportions. Furthermore, we identified overexpressed biological processes and canonical pathways through functional enrichment analysis. (3) Results: 342 mutations were found in six Latin American countries, with the TP53 and PIK3CA genes being the most studied mutations. The most common PIK3CA mutation was H1047R. Functional analysis provided insights into tumor biology and potential therapies. (4) Conclusion: evaluating specific somatic mutations in the Latin American population is crucial for understanding tumor biology and determining appropriate treatment options. Combining targeted therapies may improve clinical outcomes in breast cancer. Moreover, implementing healthy lifestyle strategies in Latin America could enhance therapy effectiveness and clinical outcomes.application/pdfengMultidisciplinary Digital Publishing Institute (MDPI)CHinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/4.0/breast cancerexposomeLatin Americasomatic mutationtarget therapyhttps://purl.org/pe-repo/ocde/ford#3.02.21Somatic Mutations in Latin American Breast Cancer Patients: A Systematic Review and Meta-Analysisinfo:eu-repo/semantics/reviewinfo:eu-repo/semantics/publishedVersionreponame:INEN-Institucionalinstname:Instituto Nacional de Enfermedades Neoplásicasinstacron:INENTHUMBNAILdiagnostics-14-00287.pdf.jpgWritten by FormatFilter org.dspace.app.mediafilter.PDFBoxThumbnail on 2025-08-21T08:03:02Z (GMT).Generated Thumbnailimage/jpeg46657https://repositorio.inen.sld.pe/backend/api/core/bitstreams/c20eccf9-30d9-4ccc-a189-9a29445ba67b/download346f2a531e6a2f0a7007b8feeecc4f72MD53falseAnonymousREADORIGINALdiagnostics-14-00287.pdfapplication/pdf1798488https://repositorio.inen.sld.pe/backend/api/core/bitstreams/b9d3324b-040d-490b-b55a-e67e8c53a6c2/download56827b61b345bea845662e17fb201fd3MD51trueAnonymousREADTEXTdiagnostics-14-00287.pdf.txtWritten by FormatFilter org.dspace.app.mediafilter.TikaTextExtractionFilter on 2025-08-21T08:03:01Z (GMT).Extracted texttext/plain85704https://repositorio.inen.sld.pe/backend/api/core/bitstreams/6cd35c9e-8c63-4ed1-8cd8-781949985507/download54f3c347dcf9cb30c2c630b42793276bMD52falseAnonymousREAD20.500.14703/431oai:repositorio.inen.sld.pe:20.500.14703/4312026-02-15T16:36:40.217Zhttps://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessopen.accesshttps://repositorio.inen.sld.peRepositorio del Instituto Nacional de Enfermedades Neoplásicasrepositorio@inen.sld.pe
dc.title.none.fl_str_mv Somatic Mutations in Latin American Breast Cancer Patients: A Systematic Review and Meta-Analysis
title Somatic Mutations in Latin American Breast Cancer Patients: A Systematic Review and Meta-Analysis
spellingShingle Somatic Mutations in Latin American Breast Cancer Patients: A Systematic Review and Meta-Analysis
Martínez-Nava, GA
breast cancer
exposome
Latin America
somatic mutation
target therapy
https://purl.org/pe-repo/ocde/ford#3.02.21
title_short Somatic Mutations in Latin American Breast Cancer Patients: A Systematic Review and Meta-Analysis
title_full Somatic Mutations in Latin American Breast Cancer Patients: A Systematic Review and Meta-Analysis
title_fullStr Somatic Mutations in Latin American Breast Cancer Patients: A Systematic Review and Meta-Analysis
title_full_unstemmed Somatic Mutations in Latin American Breast Cancer Patients: A Systematic Review and Meta-Analysis
title_sort Somatic Mutations in Latin American Breast Cancer Patients: A Systematic Review and Meta-Analysis
author Martínez-Nava, GA
author_facet Martínez-Nava, GA
Urbina-Jara, LK
Lira-Albarrán, S
Gómez, HL
Ruiz-García, E
Nieto-Coronel, MT
Ortiz-Lopez, R
Martínez, Villalba, KN
Muñoz-Sánchez, M
Aguilar, D
Gómez-Flores-Ramos, L
Cabrera-Nieto, SA
Mohar, A
Cruz-Ramos, M
author_role author
author2 Urbina-Jara, LK
Lira-Albarrán, S
Gómez, HL
Ruiz-García, E
Nieto-Coronel, MT
Ortiz-Lopez, R
Martínez, Villalba, KN
Muñoz-Sánchez, M
Aguilar, D
Gómez-Flores-Ramos, L
Cabrera-Nieto, SA
Mohar, A
Cruz-Ramos, M
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Martínez-Nava, GA
Urbina-Jara, LK
Lira-Albarrán, S
Gómez, HL
Ruiz-García, E
Nieto-Coronel, MT
Ortiz-Lopez, R
Martínez, Villalba, KN
Muñoz-Sánchez, M
Aguilar, D
Gómez-Flores-Ramos, L
Cabrera-Nieto, SA
Mohar, A
Cruz-Ramos, M
dc.subject.none.fl_str_mv breast cancer
exposome
Latin America
somatic mutation
target therapy
topic breast cancer
exposome
Latin America
somatic mutation
target therapy
https://purl.org/pe-repo/ocde/ford#3.02.21
dc.subject.ocde.none.fl_str_mv https://purl.org/pe-repo/ocde/ford#3.02.21
description (1) Background: Somatic mutations may be connected to the exposome, potentially playing a role in breast cancer’s development and clinical outcomes. There needs to be information regarding Latin American women specifically, as they are underrepresented in clinical trials and have limited access to somatic analysis in their countries. This study aims to systematically investigate somatic mutations in breast cancer patients from Latin America to gain a better understanding of tumor biology in the region. (2) Methods: We realize a systematic review of studies on breast cancer in 21 Latin American countries using various databases such as PubMed, Google Scholar, Web of Science, RedAlyc, Dianlet, and Biblioteca Virtual en Salud. Of 392 articles that fit the criteria, 10 studies have clinical data which can be used to create a database containing clinical and genetic information. We compared mutation frequencies across different breast cancer subtypes using statistical analyses and meta-analyses of proportions. Furthermore, we identified overexpressed biological processes and canonical pathways through functional enrichment analysis. (3) Results: 342 mutations were found in six Latin American countries, with the TP53 and PIK3CA genes being the most studied mutations. The most common PIK3CA mutation was H1047R. Functional analysis provided insights into tumor biology and potential therapies. (4) Conclusion: evaluating specific somatic mutations in the Latin American population is crucial for understanding tumor biology and determining appropriate treatment options. Combining targeted therapies may improve clinical outcomes in breast cancer. Moreover, implementing healthy lifestyle strategies in Latin America could enhance therapy effectiveness and clinical outcomes.
publishDate 2024
dc.date.accessioned.none.fl_str_mv 2025-07-02T17:30:13Z
dc.date.available.none.fl_str_mv 2025-07-02T17:30:13Z
dc.date.issued.fl_str_mv 2024
dc.type.none.fl_str_mv info:eu-repo/semantics/review
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dc.identifier.doi.none.fl_str_mv https: //doi.org/10.3390/diagnostics14030287
dc.identifier.uri.none.fl_str_mv https://hdl.handle.net/20.500.14703/431
dc.identifier.journal.none.fl_str_mv Diagnostics
url https: //doi.org/10.3390/diagnostics14030287
https://hdl.handle.net/20.500.14703/431
identifier_str_mv Diagnostics
dc.language.iso.none.fl_str_mv eng
language eng
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
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dc.publisher.none.fl_str_mv Multidisciplinary Digital Publishing Institute (MDPI)
dc.publisher.country.none.fl_str_mv CH
publisher.none.fl_str_mv Multidisciplinary Digital Publishing Institute (MDPI)
dc.source.none.fl_str_mv reponame:INEN-Institucional
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