Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia

© The Author(s).

Detalhes bibliográficos
Autores: Asis Tuazon, Anna Marie de, Lott, Paul, Bohórquez, Mabel, Benavides, Jennyfer, Ramirez, Carolina, Criollo, Angel, Estrada-Florez, Ana, Mateus, Gilbert, Velez, Alejandro, Carmona, Jenny, Olaya, Justo, Garcia, Elisha, Polanco-Echeverry, Guadalupe, Stultz, Jacob, Alvarez, Carolina, Tapia, Teresa, Ashton-Prolla, Patricia, Vega, Ana I., Lázaro, Conxi, Tornero, Eva, Martínez-Bouzaz, Cristina, Infante, Mar, Hoya, Miguel de la, Díez, Orland, Browning, Brian L., Teixeira, Manuel R., Carvallo, Pilar, Echeverry, Magdalena, Carvajal-Carmona, Luis
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:España
Recursos:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/226396
Acesso em linha:http://hdl.handle.net/10261/226396
Access Level:acceso abierto
Palavra-chave:Breast cancer
Haplotype
BRCA1 c.3331_3334delCAAG
Founder mutation
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oai_identifier_str oai:digital.csic.es:10261/226396
network_acronym_str ES
network_name_str España
repository_id_str
dc.title.none.fl_str_mv Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
title Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
spellingShingle Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
Asis Tuazon, Anna Marie de
Breast cancer
Haplotype
BRCA1 c.3331_3334delCAAG
Founder mutation
title_short Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
title_full Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
title_fullStr Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
title_full_unstemmed Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
title_sort Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
dc.creator.none.fl_str_mv Asis Tuazon, Anna Marie de
Lott, Paul
Bohórquez, Mabel
Benavides, Jennyfer
Ramirez, Carolina
Criollo, Angel
Estrada-Florez, Ana
Mateus, Gilbert
Velez, Alejandro
Carmona, Jenny
Olaya, Justo
Garcia, Elisha
Polanco-Echeverry, Guadalupe
Stultz, Jacob
Alvarez, Carolina
Tapia, Teresa
Ashton-Prolla, Patricia
Vega, Ana I.
Lázaro, Conxi
Tornero, Eva
Martínez-Bouzaz, Cristina
Infante, Mar
Hoya, Miguel de la
Díez, Orland
Browning, Brian L.
Teixeira, Manuel R.
Carvallo, Pilar
Echeverry, Magdalena
Carvajal-Carmona, Luis
author Asis Tuazon, Anna Marie de
author_facet Asis Tuazon, Anna Marie de
Lott, Paul
Bohórquez, Mabel
Benavides, Jennyfer
Ramirez, Carolina
Criollo, Angel
Estrada-Florez, Ana
Mateus, Gilbert
Velez, Alejandro
Carmona, Jenny
Olaya, Justo
Garcia, Elisha
Polanco-Echeverry, Guadalupe
Stultz, Jacob
Alvarez, Carolina
Tapia, Teresa
Ashton-Prolla, Patricia
Vega, Ana I.
Lázaro, Conxi
Tornero, Eva
Martínez-Bouzaz, Cristina
Infante, Mar
Hoya, Miguel de la
Díez, Orland
Browning, Brian L.
Teixeira, Manuel R.
Carvallo, Pilar
Echeverry, Magdalena
Carvajal-Carmona, Luis
author_role author
author2 Lott, Paul
Bohórquez, Mabel
Benavides, Jennyfer
Ramirez, Carolina
Criollo, Angel
Estrada-Florez, Ana
Mateus, Gilbert
Velez, Alejandro
Carmona, Jenny
Olaya, Justo
Garcia, Elisha
Polanco-Echeverry, Guadalupe
Stultz, Jacob
Alvarez, Carolina
Tapia, Teresa
Ashton-Prolla, Patricia
Vega, Ana I.
Lázaro, Conxi
Tornero, Eva
Martínez-Bouzaz, Cristina
Infante, Mar
Hoya, Miguel de la
Díez, Orland
Browning, Brian L.
Teixeira, Manuel R.
Carvallo, Pilar
Echeverry, Magdalena
Carvajal-Carmona, Luis
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv University of California, Davis
Colciencias (Colombia)
Conselho Nacional de Desenvolvimento Científico e Tecnológico (Brasil)
Hospital de Clínicas de Porto Alegre
Instituto de Salud Carlos III
Ministerio de Economía y Competitividad (España)
Generalitat de Catalunya
National Institutes of Health (US)
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Breast cancer
Haplotype
BRCA1 c.3331_3334delCAAG
Founder mutation
topic Breast cancer
Haplotype
BRCA1 c.3331_3334delCAAG
Founder mutation
description © The Author(s).
publishDate 2020
dc.date.none.fl_str_mv 2020
2021
2021
2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
Publisher's version
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/226396
url http://hdl.handle.net/10261/226396
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv #PLACEHOLDER_PARENT_METADATA_VALUE#
info:eu-repo/grantAgreement/MINECO/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/SAF2015-68016-R
http://dx.doi.org/10.1186/s13058-020-01341-3
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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spelling Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in IberiaAsis Tuazon, Anna Marie deLott, PaulBohórquez, MabelBenavides, JennyferRamirez, CarolinaCriollo, AngelEstrada-Florez, AnaMateus, GilbertVelez, AlejandroCarmona, JennyOlaya, JustoGarcia, ElishaPolanco-Echeverry, GuadalupeStultz, JacobAlvarez, CarolinaTapia, TeresaAshton-Prolla, PatriciaVega, Ana I.Lázaro, ConxiTornero, EvaMartínez-Bouzaz, CristinaInfante, MarHoya, Miguel de laDíez, OrlandBrowning, Brian L.Teixeira, Manuel R.Carvallo, PilarEcheverry, MagdalenaCarvajal-Carmona, LuisBreast cancerHaplotypeBRCA1 c.3331_3334delCAAGFounder mutation© The Author(s).[Background]: The BRCA1 c.3331_3334delCAAG founder mutation has been reported in hereditary breast and ovarian cancer families from multiple Hispanic groups. We aimed to evaluate BRCA1 c.3331_3334delCAAG haplotype diversity in cases of European, African, and Latin American ancestry. [Methods]: BC mutation carrier cases from Colombia (n = 32), Spain (n = 13), Portugal (n = 2), Chile (n = 10), Africa (n = 1), and Brazil (n = 2) were genotyped with the genome-wide single nucleotide polymorphism (SNP) arrays to evaluate haplotype diversity around BRCA1 c.3331_3334delCAAG. Additional Portuguese (n = 13) and Brazilian (n = 18) BC mutation carriers were genotyped for 15 informative SNPs surrounding BRCA1. Data were phased using SHAPEIT2, and identical by descent regions were determined using BEAGLE and GERMLINE. DMLE+ was used to date the mutation in Colombia and Iberia.[Results]: The haplotype reconstruction revealed a shared 264.4-kb region among carriers from all six countries. The estimated mutation age was ~ 100 generations in Iberia and that it was introduced to South America early during the European colonization period.[Conclusions]: Our results suggest that this mutation originated in Iberia and later introduced to Colombia and South America at the time of Spanish colonization during the early 1500s. We also found that the Colombian mutation carriers had higher European ancestry, at the BRCA1 gene harboring chromosome 17, than controls, which further supported the European origin of the mutation. Understanding founder mutations in diverse populations has implications in implementing cost-effective, ancestry-informed screening.AMDEA was supported with graduate Fellowships from UC Davis T32 Biotechnology Program. MB, ME, and LGC-C received funding from GSK Oncology and from “Oficina de Desarrollo a la Docencia de la Universidad del Tolima, Convocatoria 2010”. AC and AEF received funding from the Colciencias program “Becas Doctorales Nacionales, Convocatorias 528-2011 and 647-2015”. JB received funding from the Colciencias program “Formación de Capital Humano de Alto Nivel para el Departamento de Tolima- 2016, convocatoria 755”. BRCA1/2 genotyping of the Brazilian patients was performed in part with grants from CNPq (408313/2016-1), FAPERGS and Fundo de Incentivo a Pesquisa (FIPE) do Hospital de Clínicas de Porto Alegre, Brazil. AV received funding from CIBERER (grant ER17P1AC7112/2017). PC received funding from FONDEF grant #CA12I10152. CL was Supported by the Carlos III National Health Institute funded by FEDER funds—a way to build Europe—[PI19/00553; PI16/00563; PI16/01898; SAF2015-68016-R and CIBERONC]; the Government of Catalonia [Pla estratègic de recerca i innovació en salut (PERIS_MedPerCan and URDCat projects), 2017SGR1282 and 2017SGR496]. BR received funding from the National Institutes of Health (R01GM123306).BioMed CentralUniversity of California, DavisColciencias (Colombia)Conselho Nacional de Desenvolvimento Científico e Tecnológico (Brasil)Hospital de Clínicas de Porto AlegreInstituto de Salud Carlos IIIMinisterio de Economía y Competitividad (España)Generalitat de CatalunyaNational Institutes of Health (US)Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]2021202120202021info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionhttp://hdl.handle.net/10261/226396reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Inglés#PLACEHOLDER_PARENT_METADATA_VALUE#info:eu-repo/grantAgreement/MINECO/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/SAF2015-68016-Rhttp://dx.doi.org/10.1186/s13058-020-01341-3Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/2263962026-05-22T06:33:51Z
score 15,811543

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