Browsing by Author "Ramírez, Carolina"

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    Diabetic concentrations of metformin inhibit platelet-mediated ovarian cancer cell progression
    (2017) Erices, R.; Cubillos, Sofía; Aravena, Raúl; Santoro, Felice; Márquez, Mónica; Orellana Walden, Renán Felipe; Ramírez, Carolina; González, Pamela; Fuenzalida, Patricia; Bravo Castillo, María Loreto; Oliva, Bárbara; Kato Cardemil, Sumie Rode; Ibáñez, Carolina; Brañes, Jorge; Bravo, Erasmo; Alonso, Catalina
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    Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
    (2020) Tuazon, Anna Marie de Asis; Álvarez Aguilera, Carolina Soledad; Tapia Espinoza, Teresa Marloren; Carvallo de Saint Quentin, Pilar; Lott, Paul; Bohórquez, Mabel; Benavides, Jennyfer; Ramírez, Carolina; Criollo, Ángel; Estrada Florez, Ana
    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. 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.
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    Planificación urbana de espacios comerciales y su aporte a la esfera pública.
    (CEDEUS, ARQ Ediciones, 2020) Schlack Fuhrmann, Elke Elisabeth; Ramírez, Carolina; Fariña Pérez, Carolina Belén
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    Utilización de TIC e indagación científica para el desarrollo de la creatividad en el ambiente escolar
    (Centro de Políticas Públicas UC, 2016) Salinas Espinosa, Alvaro; Maturana Uribe, Camila Jesús; Castillo Sacaan, María Francisca del; Miranda, Valentina; Padilla Toledo, Janina Valentina; Quezada González, Daniela Paz; Ramírez, Carolina; Saa Muñoz, Nicole Betzabé del Carmen; Silva Hope, Mara