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

Público ISBD Título : Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia Tipo de documento : documento electrónico Autores : Alejandro Vélez Hoyos, Fecha de publicación : 2020 Títulos uniformes : Breast Cancer Research Idioma : Inglés (eng) Palabras clave : BRCA1 c.3331_3334delCAAG  Breast cancer  Founder mutation  Haplotype Resumen : 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. Mención de responsabilidad : Anna Marie De Asis Tuazon, Paul Lott, Mabel Bohórquez, Jennyfer Benavides, Carolina Ramirez, Angel Criollo, Ana Estrada-Florez, Gilbert Mateus, Alejandro Velez, Jenny Carmona, Justo Olaya, Elisha Garcia, Guadalupe Polanco-Echeverry, Jacob Stultz, Carolina Alvarez, Teresa Tapia, Patricia Ashton-Prolla, Brazilian Familial Cancer Network, Ana Vega, Conxi Lazaro, Eva Tornero, Cristina Martinez-Bouzas, Mar Infante, Miguel De La Hoya, Orland Diez, Brian L. Browning, COLUMBUS Consortium, Bruce Rannala, Manuel R. Teixeira, Pilar Carvallo, Magdalena Echeverry & Luis G. Carvajal-Carmona Referencia : Breast Cancer Res. 2020 Oct 21;22(1):108. DOI (Digital Object Identifier) : 10.1186/s13058-020-01341-3 PMID : 33087180 Derechos de uso : CC BY En línea : https://breast-cancer-research.biomedcentral.com/articles/10.1186/s13058-020-013 [...] Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_dis Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia [documento electrónico] / Alejandro Vélez Hoyos,  . - 2020. Obra : Breast Cancer Research Idioma : Inglés (eng) Palabras clave : BRCA1 c.3331_3334delCAAG  Breast cancer  Founder mutation  Haplotype Resumen : 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. Mención de responsabilidad : Anna Marie De Asis Tuazon, Paul Lott, Mabel Bohórquez, Jennyfer Benavides, Carolina Ramirez, Angel Criollo, Ana Estrada-Florez, Gilbert Mateus, Alejandro Velez, Jenny Carmona, Justo Olaya, Elisha Garcia, Guadalupe Polanco-Echeverry, Jacob Stultz, Carolina Alvarez, Teresa Tapia, Patricia Ashton-Prolla, Brazilian Familial Cancer Network, Ana Vega, Conxi Lazaro, Eva Tornero, Cristina Martinez-Bouzas, Mar Infante, Miguel De La Hoya, Orland Diez, Brian L. Browning, COLUMBUS Consortium, Bruce Rannala, Manuel R. Teixeira, Pilar Carvallo, Magdalena Echeverry & Luis G. Carvajal-Carmona Referencia : Breast Cancer Res. 2020 Oct 21;22(1):108. DOI (Digital Object Identifier) : 10.1186/s13058-020-01341-3 PMID : 33087180 Derechos de uso : CC BY En línea : https://breast-cancer-research.biomedcentral.com/articles/10.1186/s13058-020-013 [...] Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_dis

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