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

Background: TheBRCA1c.3331_3334delCAAG founder mutation has been reported in hereditary breast and ovarian cancer families from multiple Hispanic groups. We aimed to evaluateBRCA1c.3331_3334delCAAG haplotype diversity in cases of European, African, and Latin American ancestry. Methods: BC mutation c...

Descripción completa

Detalles Bibliográficos
Autores: Asis Tuazon, Anna Marie De, Lott, Paul, Bohorquez, 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, Lázaro García, Conxi, Tornero, Eva, Martinez Bouzas, Cristina, Infante, Mar, Hoya, Miguel De La, Diez, Orland, Browning, Brian L., Rannala, Bruce, Teixeira, Manuel R., Carvallo, Pilar, Echeverry, Magdalena, Carvajal Carmona, Luis G., Brazilian Familial Cancer Network, COLUMBUS Consortium
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/173973
Acceso en línea:https://hdl.handle.net/2445/173973
Access Level:acceso abierto
Palabra clave:Càncer de mama
Càncer d'ovari
Breast cancer
Ovarian cancer
id ES_2f60ca3b5ee371c19235307b6152a3bb
oai_identifier_str oai:diposit.ub.edu:2445/173973
network_acronym_str ES
network_name_str España
repository_id_str
spelling Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in IberiaAsis Tuazon, Anna Marie DeLott, PaulBohorquez, MabelBenavides, JennyferRamirez, CarolinaCriollo, AngelEstrada Florez, AnaMateus, GilbertVelez, AlejandroCarmona, JennyOlaya, JustoGarcia, ElishaPolanco Echeverry, GuadalupeStultz, JacobAlvarez, CarolinaTapia, TeresaAshton Prolla, PatriciaVega, AnaLázaro García, ConxiTornero, EvaMartinez Bouzas, CristinaInfante, MarHoya, Miguel De LaDiez, OrlandBrowning, Brian L.Rannala, BruceTeixeira, Manuel R.Carvallo, PilarEcheverry, MagdalenaCarvajal Carmona, Luis G.Brazilian Familial Cancer NetworkCOLUMBUS ConsortiumCàncer de mamaCàncer d'ovariBreast cancerOvarian cancerBackground: TheBRCA1c.3331_3334delCAAG founder mutation has been reported in hereditary breast and ovarian cancer families from multiple Hispanic groups. We aimed to evaluateBRCA1c.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 aroundBRCA1c.3331_3334delCAAG. Additional Portuguese (n = 13) and Brazilian (n = 18) BC mutation carriers were genotyped for 15 informative SNPs surroundingBRCA1. 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 similar to 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.BioMed Central2020info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/173973Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1186/s13058-020-01341-3Breast Cancer Research, 2020, vol. 22https://doi.org/10.1186/s13058-020-01341-3cc by (c) Tuazon et al., 2020http://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1739732026-05-27T06:46:51Z
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
Càncer de mama
Càncer d'ovari
Breast cancer
Ovarian cancer
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
Bohorquez, 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
Lázaro García, Conxi
Tornero, Eva
Martinez Bouzas, Cristina
Infante, Mar
Hoya, Miguel De La
Diez, Orland
Browning, Brian L.
Rannala, Bruce
Teixeira, Manuel R.
Carvallo, Pilar
Echeverry, Magdalena
Carvajal Carmona, Luis G.
Brazilian Familial Cancer Network
COLUMBUS Consortium
author Asis Tuazon, Anna Marie De
author_facet Asis Tuazon, Anna Marie De
Lott, Paul
Bohorquez, 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
Lázaro García, Conxi
Tornero, Eva
Martinez Bouzas, Cristina
Infante, Mar
Hoya, Miguel De La
Diez, Orland
Browning, Brian L.
Rannala, Bruce
Teixeira, Manuel R.
Carvallo, Pilar
Echeverry, Magdalena
Carvajal Carmona, Luis G.
Brazilian Familial Cancer Network
COLUMBUS Consortium
author_role author
author2 Lott, Paul
Bohorquez, 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
Lázaro García, Conxi
Tornero, Eva
Martinez Bouzas, Cristina
Infante, Mar
Hoya, Miguel De La
Diez, Orland
Browning, Brian L.
Rannala, Bruce
Teixeira, Manuel R.
Carvallo, Pilar
Echeverry, Magdalena
Carvajal Carmona, Luis G.
Brazilian Familial Cancer Network
COLUMBUS Consortium
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
author
author
author
dc.subject.none.fl_str_mv Càncer de mama
Càncer d'ovari
Breast cancer
Ovarian cancer
topic Càncer de mama
Càncer d'ovari
Breast cancer
Ovarian cancer
description Background: TheBRCA1c.3331_3334delCAAG founder mutation has been reported in hereditary breast and ovarian cancer families from multiple Hispanic groups. We aimed to evaluateBRCA1c.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 aroundBRCA1c.3331_3334delCAAG. Additional Portuguese (n = 13) and Brazilian (n = 18) BC mutation carriers were genotyped for 15 informative SNPs surroundingBRCA1. 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 similar to 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.
publishDate 2020
dc.date.none.fl_str_mv 2020
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/173973
url https://hdl.handle.net/2445/173973
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1186/s13058-020-01341-3
Breast Cancer Research, 2020, vol. 22
https://doi.org/10.1186/s13058-020-01341-3
dc.rights.none.fl_str_mv cc by (c) Tuazon et al., 2020
http://creativecommons.org/licenses/by/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by (c) Tuazon et al., 2020
http://creativecommons.org/licenses/by/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869405473709490176
score 15,300724

Similares en LA Referencia