Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia.
Anna Marie De Asis TuazonPaul LottMabel BohórquezJennyfer BenavidesCarolina RamirezAngel CriolloAna Estrada-FlorezGilbert MateusAlejandro VelezJenny CarmonaJusto OlayaElisha GarciaGuadalupe Polanco-EcheverryJacob StultzCarolina AlvarezTeresa TapiaPatricia Ashton-Prollanull nullAna VegaConxi LazaroEva TorneroCristina Martinez-BouzasMar InfanteMiguel De La HoyaOrland DiezBrian L Browningnull nullBruce RannalaManuel R TeixeiraPilar CarvalloMagdalena EcheverryLuis G Carvajal CarmonaPublished in: Breast cancer research : BCR (2020)
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.