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dc.contributor.authorTuazon, Anna Marie De Asis
dc.contributor.authorLott, Paul
dc.contributor.authorBohórquez, Mabel
dc.contributor.authorBenavides, Jennyfer
dc.contributor.authorRamirez, Carolina
dc.contributor.authorCriollo, Angel
dc.contributor.authorEstrada-Florez, Ana
dc.contributor.authorMateus, Gilbert
dc.contributor.authorVelez, Alejandro
dc.contributor.authorCarmona, Jenny
dc.contributor.authorOlaya, Justo
dc.contributor.authorGarcia, Elisha
dc.contributor.authorPolanco-Echeverry, Guadalupe
dc.contributor.authorStultz, Jacob
dc.contributor.authorAlvarez, Carolina
dc.contributor.authorTapia, Teresa
dc.contributor.authorAshton-Prolla, Patricia
dc.contributor.authorAlemar, Barbara
dc.contributor.authorNetto, Cristina Brinckmann Oliveira
dc.contributor.authorCarraro, Dirce Maria
dc.contributor.authorVargas, Fernando Regla
dc.contributor.authorda Silva, Gustavo Stumpf
dc.contributor.authorNascimento, Ivana Lúcia Oliveira
dc.contributor.authorde Souza, Kelly Rose Lobo
dc.contributor.authorAchatz, Maria Isabel
dc.contributor.authorMoreira, Miguel Angelo Martins
dc.contributor.authorTorrales, Maria Betânia
dc.contributor.authorPimenta, Maristela
dc.contributor.authorMachado-Lopes, Taisa Manuela Bonfim
dc.contributor.authorVega, Ana
dc.contributor.authorLazaro, Conxi
dc.contributor.authorTornero, Eva
dc.contributor.authorMartinez-Bouzas, Cristina
dc.contributor.authorInfante Sanz, María Del Mar 
dc.contributor.authorDe La Hoya, Miguel
dc.contributor.authorDiez, Orland
dc.contributor.authorBrowning, Brian L.
dc.contributor.authorBolaños, Fernando
dc.contributor.authorMurillo, Raúl
dc.contributor.authorSánchez, Yesid
dc.contributor.authorSanabria, Carolina
dc.contributor.authorSerrano, Martha Lucia
dc.contributor.authorSuarez, John Jairo
dc.contributor.authorRannala, Bruce
dc.contributor.authorTeixeira, Manuel R.
dc.contributor.authorCarvallo, Pilar
dc.contributor.authorEcheverry, Magdalena
dc.contributor.authorCarvajal-Carmona, Luis G.
dc.date.accessioned2025-01-09T15:53:25Z
dc.date.available2025-01-09T15:53:25Z
dc.date.issued2020
dc.identifier.citationBreast Cancer Research 22: 108 (2020)es
dc.identifier.urihttps://uvadoc.uva.es/handle/10324/73447
dc.description.abstractBackground 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.es
dc.format.mimetypeapplication/pdfes
dc.language.isoenges
dc.publisherBMC Springer Naturees
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses
dc.titleHaplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberiaes
dc.typeinfo:eu-repo/semantics/articlees
dc.identifier.doi10.1186/S13058-020-01341-3es
dc.identifier.publicationissue1es
dc.identifier.publicationtitleBreast Cancer Researches
dc.identifier.publicationvolume22es
dc.peerreviewedSIes
dc.identifier.essn1465-542Xes
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersiones


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