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
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/271181
Ver los metadatos del registro completo
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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 Técnicas2025-09-29T09:32:29Zoai: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:34982025-09-29 09:32:29.923CONICET 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 |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/url/https://biolres.biomedcentral.com/articles/10.1186/s40659-024-00579-x 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) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) |
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CONICET Digital (CONICET) |
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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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1844612991092260864 |
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13.070432 |