Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestr
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RESEARCH ARTICLE
Open Access
Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia Anna Marie De Asis Tuazon1†, Paul Lott1†, Mabel Bohórquez2†, Jennyfer Benavides2†, Carolina Ramirez2, Angel Criollo2, Ana Estrada-Florez2, Gilbert Mateus2, Alejandro Velez3,4, Jenny Carmona4, Justo Olaya5, Elisha Garcia1, Guadalupe Polanco-Echeverry1, Jacob Stultz1, Carolina Alvarez6, Teresa Tapia6, Patricia Ashton-Prolla7,8,9, Brazilian Familial Cancer Network7,8,9, Ana Vega10, Conxi Lazaro11,12, Eva Tornero11,12, Cristina Martinez-Bouzas13, Mar Infante14, Miguel De La Hoya15, Orland Diez16, Brian L. Browning17, COLUMBUS Consortium, Bruce Rannala18, Manuel R. Teixeira19†, Pilar Carvallo6†, Magdalena Echeverry2† and Luis G. Carvajal-Carmona1,20,21,22*†
Abstract 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. (Continued on next page)
* Correspondence: [email protected] † Anna Marie De Asis Tuazon, Paul Lott, Mabel Bohórquez, Jennyfer Benavides are co-first authors and contributed equally to this work. † Manuel R. Teixeira, Pilar Carvallo, Magdalena Echeverry and Luis G. CarvajalCarmona are co-senior authors. 1 Genome Center, University of California Davis, Davis, CA, USA 20 Division de Investigaciones, Fundacion de Genética y Genómica, Ibague, Colombia Full list of author information is available at the end of the article © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If materi
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