Genomic Diversity in Sporadic Breast Cancer in a Latin American Population

Brignoni, Lucía - Cappetta, Mónica - Colistro, Valentina - Sans, Mónica - Artagaveytia, Nora - Bonilla, Carolina - Bertoni, Bernardo

Resumen:

Among Latin American women, breast cancer incidences vary across populations. Uruguay and Argentina have the highest rates in South America, which are mainly attributed to strong, genetic European contributions. Most genetic variants associated with breast cancer were described in European populations. However, the vast majority of genetic contributors to breast cancer risk remain unknown. Here, we report the results of a candidate gene association study of sporadic breast cancer in 176 cases and 183 controls in the Uruguayan population. We analyzed 141 variants from 98 loci that have been associated with overall breast cancer risk in European populations. We found weak evidence for the association of risk variants rs294174 (ESR1), rs16886165 (MAP3K1), rs2214681 (CNTNAP2), rs4237855 (VDR), rs9594579 (RANKL), rs8183919 (PTGIS), rs2981582 (FGFR2), and rs1799950 (BRCA1) with sporadic breast cancer. These results provide useful insight into the genetic susceptibility to sporadic breast cancer in the Uruguayan population and support the use of genetic risk scores for individualized screening and prevention.

Detalles Bibliográficos
2020
Breast cancer
Population genetics
Latin America
NEOPLASIAS DE LA MAMA
GENÉTICA DE POBLACIÓN
EPIDEMIOLOGÍA
MUJERES
ESTUDIOS DE CASOS Y CONTROLES
GENÉTICA
ESTUDIOS DE ASOCIACIÓN GENÉTICA
PERSONA DE MEDIANA EDAD
PREDISPOSICIÓN GENÉTICA A LA ENFERMEDAD
FACTORES DE RIESGO
POLIMORFISMO DE NUCLEÓTIDO SIMPLE
Inglés
Universidad de la República
COLIBRI
https://hdl.handle.net/20.500.12008/55715
Acceso abierto
Licencia Creative Commons Atribución (CC - By 4.0)
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author Brignoni, Lucía
author2 Cappetta, Mónica
Colistro, Valentina
Sans, Mónica
Artagaveytia, Nora
Bonilla, Carolina
Bertoni, Bernardo
author2_role author
author
author
author
author
author
author_facet Brignoni, Lucía
Cappetta, Mónica
Colistro, Valentina
Sans, Mónica
Artagaveytia, Nora
Bonilla, Carolina
Bertoni, Bernardo
author_role author
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collection COLIBRI
dc.contributor.filiacion.none.fl_str_mv Brignoni Lucía, Universidad de la República (Uruguay). Facultad de Medicina. Departamento de Genética y Departamento Básico de Medicina
Cappetta Mónica, Universidad de la República (Uruguay). Facultad de Medicina. Departamento de Genética
Colistro Valentina, Universidad de la República (Uruguay). Facultad de Medicina. Departamento de Métodos Cuantitativos
Sans Mónica, Universidad de la República (Uruguay). Facultad de Humanidades y Ciencias de la Educación. Departamento de Antropología Biológica
Artagaveytia Nora, Universidad de la República (Uruguay). Facultad de Medicina. Departamento Básico de Medicina
Bonilla Carolina, Universidade de São Paulo (Brasil). Faculdade de Medicina. Departamento de Medicina Preventiva; University of Bristol (E.E.U.U.). Bristol Medical School. Population Health Sciences
Bertoni Bernardo, Universidad de la República (Uruguay). Facultad de Medicina. Departamento de Genética
dc.coverage.spatial.es.fl_str_mv AMÉRICA LATINA
URUGUAY
ARGENTINA
dc.creator.none.fl_str_mv Brignoni, Lucía
Cappetta, Mónica
Colistro, Valentina
Sans, Mónica
Artagaveytia, Nora
Bonilla, Carolina
Bertoni, Bernardo
dc.date.accessioned.none.fl_str_mv 2026-06-25T17:00:49Z
dc.date.available.none.fl_str_mv 2026-06-25T17:00:49Z
dc.date.issued.none.fl_str_mv 2020
dc.description.abstract.none.fl_txt_mv Among Latin American women, breast cancer incidences vary across populations. Uruguay and Argentina have the highest rates in South America, which are mainly attributed to strong, genetic European contributions. Most genetic variants associated with breast cancer were described in European populations. However, the vast majority of genetic contributors to breast cancer risk remain unknown. Here, we report the results of a candidate gene association study of sporadic breast cancer in 176 cases and 183 controls in the Uruguayan population. We analyzed 141 variants from 98 loci that have been associated with overall breast cancer risk in European populations. We found weak evidence for the association of risk variants rs294174 (ESR1), rs16886165 (MAP3K1), rs2214681 (CNTNAP2), rs4237855 (VDR), rs9594579 (RANKL), rs8183919 (PTGIS), rs2981582 (FGFR2), and rs1799950 (BRCA1) with sporadic breast cancer. These results provide useful insight into the genetic susceptibility to sporadic breast cancer in the Uruguayan population and support the use of genetic risk scores for individualized screening and prevention.
dc.format.extent.es.fl_str_mv 12 p.
dc.format.mimetype.es.fl_str_mv application/pdf
dc.identifier.citation.es.fl_str_mv Brignoni L, Cappetta M, Colistro V y otros. Genomic Diversity in Sporadic Breast Cancer in a Latin American Population. Genes [en línea]. 2020;11(11). 12 p.
dc.identifier.doi.none.fl_str_mv 10.3390/genes11111272
dc.identifier.eissn.none.fl_str_mv 2073-4425
dc.identifier.uri.none.fl_str_mv https://hdl.handle.net/20.500.12008/55715
dc.language.iso.none.fl_str_mv en
eng
dc.publisher.es.fl_str_mv MDPI
dc.relation.none.fl_str_mv Genes. 2020;11(11)
dc.rights.license.none.fl_str_mv Licencia Creative Commons Atribución (CC - By 4.0)
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
dc.source.none.fl_str_mv reponame:COLIBRI
instname:Universidad de la República
instacron:Universidad de la República
dc.subject.es.fl_str_mv Breast cancer
Population genetics
Latin America
dc.subject.other.es.fl_str_mv NEOPLASIAS DE LA MAMA
GENÉTICA DE POBLACIÓN
EPIDEMIOLOGÍA
MUJERES
ESTUDIOS DE CASOS Y CONTROLES
GENÉTICA
ESTUDIOS DE ASOCIACIÓN GENÉTICA
PERSONA DE MEDIANA EDAD
PREDISPOSICIÓN GENÉTICA A LA ENFERMEDAD
FACTORES DE RIESGO
POLIMORFISMO DE NUCLEÓTIDO SIMPLE
dc.title.none.fl_str_mv Genomic Diversity in Sporadic Breast Cancer in a Latin American Population
dc.type.es.fl_str_mv Artículo
dc.type.none.fl_str_mv info:eu-repo/semantics/article
dc.type.version.none.fl_str_mv info:eu-repo/semantics/publishedVersion
description Among Latin American women, breast cancer incidences vary across populations. Uruguay and Argentina have the highest rates in South America, which are mainly attributed to strong, genetic European contributions. Most genetic variants associated with breast cancer were described in European populations. However, the vast majority of genetic contributors to breast cancer risk remain unknown. Here, we report the results of a candidate gene association study of sporadic breast cancer in 176 cases and 183 controls in the Uruguayan population. We analyzed 141 variants from 98 loci that have been associated with overall breast cancer risk in European populations. We found weak evidence for the association of risk variants rs294174 (ESR1), rs16886165 (MAP3K1), rs2214681 (CNTNAP2), rs4237855 (VDR), rs9594579 (RANKL), rs8183919 (PTGIS), rs2981582 (FGFR2), and rs1799950 (BRCA1) with sporadic breast cancer. These results provide useful insight into the genetic susceptibility to sporadic breast cancer in the Uruguayan population and support the use of genetic risk scores for individualized screening and prevention.
eu_rights_str_mv openAccess
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identifier_str_mv Brignoni L, Cappetta M, Colistro V y otros. Genomic Diversity in Sporadic Breast Cancer in a Latin American Population. Genes [en línea]. 2020;11(11). 12 p.
10.3390/genes11111272
2073-4425
instacron_str Universidad de la República
institution Universidad de la República
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language eng
language_invalid_str_mv en
network_acronym_str COLIBRI
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publishDate 2020
reponame_str COLIBRI
repository.mail.fl_str_mv karina.camps@seciu.edu.uy
repository.name.fl_str_mv COLIBRI - Universidad de la República
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rights_invalid_str_mv Licencia Creative Commons Atribución (CC - By 4.0)
spelling Brignoni Lucía, Universidad de la República (Uruguay). Facultad de Medicina. Departamento de Genética y Departamento Básico de MedicinaCappetta Mónica, Universidad de la República (Uruguay). Facultad de Medicina. Departamento de GenéticaColistro Valentina, Universidad de la República (Uruguay). Facultad de Medicina. Departamento de Métodos CuantitativosSans Mónica, Universidad de la República (Uruguay). Facultad de Humanidades y Ciencias de la Educación. Departamento de Antropología BiológicaArtagaveytia Nora, Universidad de la República (Uruguay). Facultad de Medicina. Departamento Básico de MedicinaBonilla Carolina, Universidade de São Paulo (Brasil). Faculdade de Medicina. Departamento de Medicina Preventiva; University of Bristol (E.E.U.U.). Bristol Medical School. Population Health SciencesBertoni Bernardo, Universidad de la República (Uruguay). Facultad de Medicina. Departamento de GenéticaAMÉRICA LATINAURUGUAYARGENTINA2026-06-25T17:00:49Z2026-06-25T17:00:49Z2020Brignoni L, Cappetta M, Colistro V y otros. Genomic Diversity in Sporadic Breast Cancer in a Latin American Population. Genes [en línea]. 2020;11(11). 12 p.https://hdl.handle.net/20.500.12008/5571510.3390/genes111112722073-4425Among Latin American women, breast cancer incidences vary across populations. Uruguay and Argentina have the highest rates in South America, which are mainly attributed to strong, genetic European contributions. Most genetic variants associated with breast cancer were described in European populations. However, the vast majority of genetic contributors to breast cancer risk remain unknown. Here, we report the results of a candidate gene association study of sporadic breast cancer in 176 cases and 183 controls in the Uruguayan population. We analyzed 141 variants from 98 loci that have been associated with overall breast cancer risk in European populations. We found weak evidence for the association of risk variants rs294174 (ESR1), rs16886165 (MAP3K1), rs2214681 (CNTNAP2), rs4237855 (VDR), rs9594579 (RANKL), rs8183919 (PTGIS), rs2981582 (FGFR2), and rs1799950 (BRCA1) with sporadic breast cancer. These results provide useful insight into the genetic susceptibility to sporadic breast cancer in the Uruguayan population and support the use of genetic risk scores for individualized screening and prevention.Submitted by Almiñana María Cecilia (marialminana@gmail.com) on 2026-06-25T16:02:19Z No. of bitstreams: 2 license_rdf: 25630 bytes, checksum: e7132498e7c1fe99f7096667baa99b25 (MD5) Genomic Diversity in Sporadic Breast Cancer in a Latin American Population.pdf: 19192556 bytes, checksum: 1af624c20a2e1324748d60041ac24b32 (MD5)Approved for entry into archive by Almiñana María Cecilia (marialminana@gmail.com) on 2026-06-25T16:56:01Z (GMT) No. of bitstreams: 2 license_rdf: 25630 bytes, checksum: e7132498e7c1fe99f7096667baa99b25 (MD5) Genomic Diversity in Sporadic Breast Cancer in a Latin American Population.pdf: 19192556 bytes, checksum: 1af624c20a2e1324748d60041ac24b32 (MD5)Made available in DSpace by Luna Fabiana (fabiana.luna@seciu.edu.uy) on 2026-06-25T17:00:49Z (GMT). No. of bitstreams: 2 license_rdf: 25630 bytes, checksum: e7132498e7c1fe99f7096667baa99b25 (MD5) Genomic Diversity in Sporadic Breast Cancer in a Latin American Population.pdf: 19192556 bytes, checksum: 1af624c20a2e1324748d60041ac24b32 (MD5) Previous issue date: 202012 p.application/pdfenengMDPIGenes. 2020;11(11)Las obras depositadas en el Repositorio se rigen por la Ordenanza de los Derechos de la Propiedad Intelectual de la Universidad de la República.(Res. Nº 91 de C.D.C. de 8/III/1994 – D.O. 7/IV/1994) y por la Ordenanza del Repositorio Abierto de la Universidad de la República (Res. Nº 16 de C.D.C. de 07/10/2014)info:eu-repo/semantics/openAccessLicencia Creative Commons Atribución (CC - By 4.0)Breast cancerPopulation geneticsLatin AmericaNEOPLASIAS DE LA MAMAGENÉTICA DE POBLACIÓNEPIDEMIOLOGÍAMUJERESESTUDIOS DE CASOS Y CONTROLESGENÉTICAESTUDIOS DE ASOCIACIÓN GENÉTICAPERSONA DE MEDIANA EDADPREDISPOSICIÓN GENÉTICA A LA ENFERMEDADFACTORES DE RIESGOPOLIMORFISMO DE NUCLEÓTIDO SIMPLEGenomic Diversity in Sporadic Breast Cancer in a Latin American PopulationArtículoinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionreponame:COLIBRIinstname:Universidad de la Repúblicainstacron:Universidad de la RepúblicaBrignoni, LucíaCappetta, MónicaColistro, ValentinaSans, MónicaArtagaveytia, NoraBonilla, CarolinaBertoni, BernardoLICENSElicense.txtlicense.txttext/plain; charset=utf-84267http://localhost:8080/xmlui/bitstream/20.500.12008/55715/5/license.txt6429389a7df7277b72b7924fdc7d47a9MD55CC-LICENSElicense_urllicense_urltext/plain; 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- Universidad de la Repúblicafalse
spellingShingle Genomic Diversity in Sporadic Breast Cancer in a Latin American Population
Brignoni, Lucía
Breast cancer
Population genetics
Latin America
NEOPLASIAS DE LA MAMA
GENÉTICA DE POBLACIÓN
EPIDEMIOLOGÍA
MUJERES
ESTUDIOS DE CASOS Y CONTROLES
GENÉTICA
ESTUDIOS DE ASOCIACIÓN GENÉTICA
PERSONA DE MEDIANA EDAD
PREDISPOSICIÓN GENÉTICA A LA ENFERMEDAD
FACTORES DE RIESGO
POLIMORFISMO DE NUCLEÓTIDO SIMPLE
status_str publishedVersion
title Genomic Diversity in Sporadic Breast Cancer in a Latin American Population
title_full Genomic Diversity in Sporadic Breast Cancer in a Latin American Population
title_fullStr Genomic Diversity in Sporadic Breast Cancer in a Latin American Population
title_full_unstemmed Genomic Diversity in Sporadic Breast Cancer in a Latin American Population
title_short Genomic Diversity in Sporadic Breast Cancer in a Latin American Population
title_sort Genomic Diversity in Sporadic Breast Cancer in a Latin American Population
topic Breast cancer
Population genetics
Latin America
NEOPLASIAS DE LA MAMA
GENÉTICA DE POBLACIÓN
EPIDEMIOLOGÍA
MUJERES
ESTUDIOS DE CASOS Y CONTROLES
GENÉTICA
ESTUDIOS DE ASOCIACIÓN GENÉTICA
PERSONA DE MEDIANA EDAD
PREDISPOSICIÓN GENÉTICA A LA ENFERMEDAD
FACTORES DE RIESGO
POLIMORFISMO DE NUCLEÓTIDO SIMPLE
url https://hdl.handle.net/20.500.12008/55715

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