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

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dc.contributor.authorTuazon, Anna Marie de Asis
dc.contributor.authorÁlvarez Aguilera, Carolina Soledad
dc.contributor.authorTapia Espinoza, Teresa Marloren
dc.contributor.authorCarvallo de Saint Quentin, Pilar
dc.contributor.authorLott, Paul
dc.contributor.authorBohórquez, Mabel
dc.contributor.authorBenavides, Jennyfer
dc.contributor.authorRamírez, Carolina
dc.contributor.authorCriollo, Ángel
dc.contributor.authorEstrada Florez, Ana
dc.date.accessioned2020-10-26T17:03:59Z
dc.date.available2020-10-26T17:03:59Z
dc.date.issued2020
dc.date.updated2020-10-25T00:02:29Z
dc.description.abstractAbstract 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.
dc.identifier.citationBreast Cancer Research. 2020 Oct 21;22(1):108
dc.identifier.doi10.1186/s13058-020-01341-3
dc.identifier.urihttps://doi.org/10.1186/s13058-020-01341-3
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/48107
dc.issue.numeroNo. 108
dc.language.isoen
dc.nota.accesoContenido completo
dc.pagina.final10
dc.pagina.final10
dc.pagina.inicio1
dc.revistaBreast Cancer Researches_ES
dc.rightsacceso abierto
dc.rights.holderThe Author(s)
dc.subjectBreast canceres_ES
dc.subjectHaplotypees_ES
dc.subjectBRCA1 c.3331_3334delCAAGes_ES
dc.subjectFounder mutationes_ES
dc.subject.ddc616.99449
dc.subject.deweyMedicina y saludes_ES
dc.titleHaplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberiaes_ES
dc.typeartículo
dc.volumenVol. 22
sipa.codpersvinculados15128
sipa.codpersvinculados16334
sipa.codpersvinculados104361
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