2026-04-26T21:58:32Zhttps://uvadoc.uva.es/oai/request

oai:uvadoc.uva.es:10324/734472025-02-10T12:40:58Zcom_10324_1134com_10324_931com_10324_894col_10324_1213

Tuazon, Anna Marie De Asis 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 Alemar, Barbara Netto, Cristina Brinckmann Oliveira Carraro, Dirce Maria Vargas, Fernando Regla da Silva, Gustavo Stumpf Nascimento, Ivana Lúcia Oliveira de Souza, Kelly Rose Lobo Achatz, Maria Isabel Moreira, Miguel Angelo Martins Torrales, Maria Betânia Pimenta, Maristela Machado-Lopes, Taisa Manuela Bonfim Vega, Ana Lazaro, Conxi Tornero, Eva Martinez-Bouzas, Cristina Infante Sanz, María Del Mar De La Hoya, Miguel Diez, Orland Browning, Brian L. Bolaños, Fernando Murillo, Raúl Sánchez, Yesid Sanabria, Carolina Serrano, Martha Lucia Suarez, John Jairo Rannala, Bruce Teixeira, Manuel R. Carvallo, Pilar Echeverry, Magdalena Carvajal-Carmona, Luis G. 2025-01-09T15:53:25Z 2025-01-09T15:53:25Z 2020 Breast Cancer Research 22: 108 (2020) https://uvadoc.uva.es/handle/10324/73447 10.1186/S13058-020-01341-3 1 Breast Cancer Research 22 1465-542X 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. application/pdf eng BMC Springer Nature info:eu-repo/semantics/openAccess Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion SI