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

doi:10.1186/s13058-020-01341-3

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Article

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

Breast cancer research : BCR - 21 Oct 2020

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, Vega Ana, Lazaro Conxi, Tornero Eva, Martinez-Bouzas Cristina, Infante Mar, De La Hoya Miguel, Diez Orland, Browning Brian L, Rannala Bruce, Teixeira Manuel R, Carvallo Pilar, Echeverry Magdalena, Carvajal-Carmona Luis G

Abstract excerpt

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...

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PMID: 33087180
DOI: 10.1186/s13058-020-01341-3
PMCID: PMC7579869

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