Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across...

Autores
Landeros, Natalia; Vargas Roig, Laura Maria; Denita Juárez, Silvina Paola; Mampel, Alejandra; Hasbún, Rafael; Araya, Hernán; Castillo, Iván; Valdes, Camila; Flores, Marcela; Salgado Salter, Juan David; Vasquez, Katherin; Romero, Jacqueline; Pérez Castro, Ramón
Año de publicación
2024
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background Breast cancer is a leading cause of cancer-related mortality worldwide, with hereditary forms accounting for approximately 10% of cases. In Chile, significant gaps exist in genetic counseling and testing, particularly within the public health system. This study presents the implementation and outcomes of the first regional hereditary cancer program in the Maule region of Chile, aimed at improving detection and management of hereditary breast cancer. Methods A cohort of 48 high-risk breast cancer patients from the Hospital Regional de Talca received genetic counseling and underwent Next-Generation Sequencing multigene panel testing. The program was established through collaboration between multiple institutions, leveraging telemedicine and outsourcing sequencing analysis to address regional gaps. Results Pathogenic or likely pathogenic variants were identified in 12% of patients, including in BRCA1, BRCA2, TP53, and PALB2. Notably, novel pathogenic variants in BRCA1 (rs80357505) and TP53 (rs1131691022) were discovered, highlighting the unique genetic landscape of the Chilean population. Additionally, 70 variants of uncertain significance were found across 42 genes, particularly in FAN1, MSH6, and FANCI, underscoring the need for further research. The program’s collaborative approach effectively bridged critical gaps in genetic services, providing highquality care within the public health system despite limited resources. Conclusions The Regional Hereditary Cancer Program addresses significant gaps in genetic counseling and testing in Chile’s public health system. This scalable model enhances early detection and personalized treatment for hereditary cancer patients and could be adapted to other regions across Latin America.
Fil: Landeros, Natalia. Universidad Catolica de Maule; Chile
Fil: Vargas Roig, Laura Maria. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Medicina y Biología Experimental de Cuyo; Argentina
Fil: Denita Juárez, Silvina Paola. Hema:Diagnostico genético y molecular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Mampel, Alejandra. Universidad del Aconcagua. Facultad de Ciencias Médicas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Medicina y Biología Experimental de Cuyo; Argentina
Fil: Hasbún, Rafael. Hospital Regional de Talca; Chile
Fil: Araya, Hernán. Universidad Católica de Maule; Chile
Fil: Castillo, Iván. Universidad Católica de Maule; Chile
Fil: Valdes, Camila. Hospital Regional de Talca; Chile
Fil: Flores, Marcela. Hospital Regional de Talca; Chile
Fil: Salgado Salter, Juan David. Hema; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; Argentina
Fil: Vasquez, Katherin. Universidad Catolica de Maule; Chile
Fil: Romero, Jacqueline. Universidad Catolica de Maule; Chile
Fil: Pérez Castro, Ramón. Universidad Catolica de Maule; Chile
Materia
BREAST CANCER
PATHOGENIC VARIATIONS
MULTIGENE PANEL TESTING
CANCER GENETIC COUNSELING
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/271181
Acceder
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network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin AmericaLanderos, NataliaVargas Roig, Laura MariaDenita Juárez, Silvina PaolaMampel, AlejandraHasbún, RafaelAraya, HernánCastillo, IvánValdes, CamilaFlores, MarcelaSalgado Salter, Juan DavidVasquez, KatherinRomero, JacquelinePérez Castro, RamónBREAST CANCERPATHOGENIC VARIATIONSMULTIGENE PANEL TESTINGCANCER GENETIC COUNSELINGhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Background Breast cancer is a leading cause of cancer-related mortality worldwide, with hereditary forms accounting for approximately 10% of cases. In Chile, significant gaps exist in genetic counseling and testing, particularly within the public health system. This study presents the implementation and outcomes of the first regional hereditary cancer program in the Maule region of Chile, aimed at improving detection and management of hereditary breast cancer. Methods A cohort of 48 high-risk breast cancer patients from the Hospital Regional de Talca received genetic counseling and underwent Next-Generation Sequencing multigene panel testing. The program was established through collaboration between multiple institutions, leveraging telemedicine and outsourcing sequencing analysis to address regional gaps. Results Pathogenic or likely pathogenic variants were identified in 12% of patients, including in BRCA1, BRCA2, TP53, and PALB2. Notably, novel pathogenic variants in BRCA1 (rs80357505) and TP53 (rs1131691022) were discovered, highlighting the unique genetic landscape of the Chilean population. Additionally, 70 variants of uncertain significance were found across 42 genes, particularly in FAN1, MSH6, and FANCI, underscoring the need for further research. The program’s collaborative approach effectively bridged critical gaps in genetic services, providing highquality care within the public health system despite limited resources. Conclusions The Regional Hereditary Cancer Program addresses significant gaps in genetic counseling and testing in Chile’s public health system. This scalable model enhances early detection and personalized treatment for hereditary cancer patients and could be adapted to other regions across Latin America.Fil: Landeros, Natalia. Universidad Catolica de Maule; ChileFil: Vargas Roig, Laura Maria. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Medicina y Biología Experimental de Cuyo; ArgentinaFil: Denita Juárez, Silvina Paola. Hema:Diagnostico genético y molecular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Mampel, Alejandra. Universidad del Aconcagua. Facultad de Ciencias Médicas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Medicina y Biología Experimental de Cuyo; ArgentinaFil: Hasbún, Rafael. Hospital Regional de Talca; ChileFil: Araya, Hernán. Universidad Católica de Maule; ChileFil: Castillo, Iván. Universidad Católica de Maule; ChileFil: Valdes, Camila. Hospital Regional de Talca; ChileFil: Flores, Marcela. Hospital Regional de Talca; ChileFil: Salgado Salter, Juan David. Hema; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; ArgentinaFil: Vasquez, Katherin. Universidad Catolica de Maule; ChileFil: Romero, Jacqueline. Universidad Catolica de Maule; ChileFil: Pérez Castro, Ramón. Universidad Catolica de Maule; ChileBioMed Central2024-12info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/271181Landeros, Natalia; Vargas Roig, Laura Maria; Denita Juárez, Silvina Paola; Mampel, Alejandra; Hasbún, Rafael; et al.; Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America; BioMed Central; Biological Research; 57; 1; 12-2024; 1-110717-6287CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://biolres.biomedcentral.com/articles/10.1186/s40659-024-00579-xinfo:eu-repo/semantics/altIdentifier/doi/10.1186/s40659-024-00579-xinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-15T14:20:23Zoai:ri.conicet.gov.ar:11336/271181instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-10-15 14:20:23.96CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America
title Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America
spellingShingle Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America
Landeros, Natalia
BREAST CANCER
PATHOGENIC VARIATIONS
MULTIGENE PANEL TESTING
CANCER GENETIC COUNSELING
title_short Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America
title_full Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America
title_fullStr Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America
title_full_unstemmed Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America
title_sort Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America
dc.creator.none.fl_str_mv Landeros, Natalia
Vargas Roig, Laura Maria
Denita Juárez, Silvina Paola
Mampel, Alejandra
Hasbún, Rafael
Araya, Hernán
Castillo, Iván
Valdes, Camila
Flores, Marcela
Salgado Salter, Juan David
Vasquez, Katherin
Romero, Jacqueline
Pérez Castro, Ramón
author Landeros, Natalia
author_facet Landeros, Natalia
Vargas Roig, Laura Maria
Denita Juárez, Silvina Paola
Mampel, Alejandra
Hasbún, Rafael
Araya, Hernán
Castillo, Iván
Valdes, Camila
Flores, Marcela
Salgado Salter, Juan David
Vasquez, Katherin
Romero, Jacqueline
Pérez Castro, Ramón
author_role author
author2 Vargas Roig, Laura Maria
Denita Juárez, Silvina Paola
Mampel, Alejandra
Hasbún, Rafael
Araya, Hernán
Castillo, Iván
Valdes, Camila
Flores, Marcela
Salgado Salter, Juan David
Vasquez, Katherin
Romero, Jacqueline
Pérez Castro, Ramón
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv BREAST CANCER
PATHOGENIC VARIATIONS
MULTIGENE PANEL TESTING
CANCER GENETIC COUNSELING
topic BREAST CANCER
PATHOGENIC VARIATIONS
MULTIGENE PANEL TESTING
CANCER GENETIC COUNSELING
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Background Breast cancer is a leading cause of cancer-related mortality worldwide, with hereditary forms accounting for approximately 10% of cases. In Chile, significant gaps exist in genetic counseling and testing, particularly within the public health system. This study presents the implementation and outcomes of the first regional hereditary cancer program in the Maule region of Chile, aimed at improving detection and management of hereditary breast cancer. Methods A cohort of 48 high-risk breast cancer patients from the Hospital Regional de Talca received genetic counseling and underwent Next-Generation Sequencing multigene panel testing. The program was established through collaboration between multiple institutions, leveraging telemedicine and outsourcing sequencing analysis to address regional gaps. Results Pathogenic or likely pathogenic variants were identified in 12% of patients, including in BRCA1, BRCA2, TP53, and PALB2. Notably, novel pathogenic variants in BRCA1 (rs80357505) and TP53 (rs1131691022) were discovered, highlighting the unique genetic landscape of the Chilean population. Additionally, 70 variants of uncertain significance were found across 42 genes, particularly in FAN1, MSH6, and FANCI, underscoring the need for further research. The program’s collaborative approach effectively bridged critical gaps in genetic services, providing highquality care within the public health system despite limited resources. Conclusions The Regional Hereditary Cancer Program addresses significant gaps in genetic counseling and testing in Chile’s public health system. This scalable model enhances early detection and personalized treatment for hereditary cancer patients and could be adapted to other regions across Latin America.
Fil: Landeros, Natalia. Universidad Catolica de Maule; Chile
Fil: Vargas Roig, Laura Maria. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Medicina y Biología Experimental de Cuyo; Argentina
Fil: Denita Juárez, Silvina Paola. Hema:Diagnostico genético y molecular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Mampel, Alejandra. Universidad del Aconcagua. Facultad de Ciencias Médicas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Medicina y Biología Experimental de Cuyo; Argentina
Fil: Hasbún, Rafael. Hospital Regional de Talca; Chile
Fil: Araya, Hernán. Universidad Católica de Maule; Chile
Fil: Castillo, Iván. Universidad Católica de Maule; Chile
Fil: Valdes, Camila. Hospital Regional de Talca; Chile
Fil: Flores, Marcela. Hospital Regional de Talca; Chile
Fil: Salgado Salter, Juan David. Hema; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; Argentina
Fil: Vasquez, Katherin. Universidad Catolica de Maule; Chile
Fil: Romero, Jacqueline. Universidad Catolica de Maule; Chile
Fil: Pérez Castro, Ramón. Universidad Catolica de Maule; Chile
description Background Breast cancer is a leading cause of cancer-related mortality worldwide, with hereditary forms accounting for approximately 10% of cases. In Chile, significant gaps exist in genetic counseling and testing, particularly within the public health system. This study presents the implementation and outcomes of the first regional hereditary cancer program in the Maule region of Chile, aimed at improving detection and management of hereditary breast cancer. Methods A cohort of 48 high-risk breast cancer patients from the Hospital Regional de Talca received genetic counseling and underwent Next-Generation Sequencing multigene panel testing. The program was established through collaboration between multiple institutions, leveraging telemedicine and outsourcing sequencing analysis to address regional gaps. Results Pathogenic or likely pathogenic variants were identified in 12% of patients, including in BRCA1, BRCA2, TP53, and PALB2. Notably, novel pathogenic variants in BRCA1 (rs80357505) and TP53 (rs1131691022) were discovered, highlighting the unique genetic landscape of the Chilean population. Additionally, 70 variants of uncertain significance were found across 42 genes, particularly in FAN1, MSH6, and FANCI, underscoring the need for further research. The program’s collaborative approach effectively bridged critical gaps in genetic services, providing highquality care within the public health system despite limited resources. Conclusions The Regional Hereditary Cancer Program addresses significant gaps in genetic counseling and testing in Chile’s public health system. This scalable model enhances early detection and personalized treatment for hereditary cancer patients and could be adapted to other regions across Latin America.
publishDate 2024
dc.date.none.fl_str_mv 2024-12
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/271181
Landeros, Natalia; Vargas Roig, Laura Maria; Denita Juárez, Silvina Paola; Mampel, Alejandra; Hasbún, Rafael; et al.; Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America; BioMed Central; Biological Research; 57; 1; 12-2024; 1-11
0717-6287
CONICET Digital
CONICET
url http://hdl.handle.net/11336/271181
identifier_str_mv Landeros, Natalia; Vargas Roig, Laura Maria; Denita Juárez, Silvina Paola; Mampel, Alejandra; Hasbún, Rafael; et al.; Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America; BioMed Central; Biological Research; 57; 1; 12-2024; 1-11
0717-6287
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
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info:eu-repo/semantics/altIdentifier/doi/10.1186/s40659-024-00579-x
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
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reponame_str CONICET Digital (CONICET)
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instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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