RT info:eu-repo/semantics/article
T1 Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
A1 Tuazon, Anna Marie De Asis
A1 Lott, Paul
A1 Bohórquez, Mabel
A1 Benavides, Jennyfer
A1 Ramirez, Carolina
A1 Criollo, Angel
A1 Estrada-Florez, Ana
A1 Mateus, Gilbert
A1 Velez, Alejandro
A1 Carmona, Jenny
A1 Olaya, Justo
A1 Garcia, Elisha
A1 Polanco-Echeverry, Guadalupe
A1 Stultz, Jacob
A1 Alvarez, Carolina
A1 Tapia, Teresa
A1 Ashton-Prolla, Patricia
A1 Alemar, Barbara
A1 Netto, Cristina Brinckmann Oliveira
A1 Carraro, Dirce Maria
A1 Vargas, Fernando Regla
A1 da Silva, Gustavo Stumpf
A1 Nascimento, Ivana Lúcia Oliveira
A1 de Souza, Kelly Rose Lobo
A1 Achatz, Maria Isabel
A1 Moreira, Miguel Angelo Martins
A1 Torrales, Maria Betânia
A1 Pimenta, Maristela
A1 Machado-Lopes, Taisa Manuela Bonfim
A1 Vega, Ana
A1 Lazaro, Conxi
A1 Tornero, Eva
A1 Martinez-Bouzas, Cristina
A1 Infante Sanz, María Del Mar
A1 De La Hoya, Miguel
A1 Diez, Orland
A1 Browning, Brian L.
A1 Bolaños, Fernando
A1 Murillo, Raúl
A1 Sánchez, Yesid
A1 Sanabria, Carolina
A1 Serrano, Martha Lucia
A1 Suarez, John Jairo
A1 Rannala, Bruce
A1 Teixeira, Manuel R.
A1 Carvallo, Pilar
A1 Echeverry, Magdalena
A1 Carvajal-Carmona, Luis G.
AB BackgroundThe 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.MethodsBC 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.ResultsThe 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.ConclusionsOur 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.
PB BMC Springer Nature
YR 2020
FD 2020
LK https://uvadoc.uva.es/handle/10324/73447
UL https://uvadoc.uva.es/handle/10324/73447
LA eng
NO Breast Cancer Research 22: 108 (2020)
DS UVaDOC
RD 21-jul-2025