Browsing by Author "Moraga, Mauricio"

Now showing 1 - 3 of 3
  • No Thumbnail Available
    Item
    ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences?
    (2008) Tapia, Teresa; Sanchez, Alejandro; Vallejos, Maricarmen; Alvarez, Carolina; Moraga, Mauricio; Smalley, Susan; Camus, Mauricio; Alvarez, Manuel; Carvallo, Pilar
    Besides BRCA1 and BRCA2, two genes accounting for a small proportion of breast cancer cases, ATM has been widely proposed as a low-penetrance susceptibility gene. Several nucleotide changes have been proposed to be associated with breast cancer, still remaining a high controversy in this sense. We screened the ATM gene in 94 breast cancer patients selected from 78 high-risk families, not presenting a mutation in BRCA1 or BRCA2. We found three novel allelic variants: IVS64 + 51delT and p.L752L, not showing association with hereditary breast cancer, and p.L694L found in one family in two breast cancer patients. Two amino acid substitutions p.S707P and p.F858L, previously reported to be associated with breast cancer, were present in our study in cases and controls, lacking of association with breast cancer. A positive association of c. 5557G > A (p.D1853N) was found (OR 2.52, P = 0.008), when analyzed alone and in combination with an intronic variant IVS24-9delT (OR 3.97; P = 0.0003). We postulate that our discrepancies with other reports related to the associated ATM alleles to hereditary breast cancer, as well as discrepancies in the literature between other groups, could be explained by the diversity in the ethnic origins of families gathered in a sole study, and the selection of the control group. In relation to this issue, and based on genetic markers, we found that the Chilean group of breast cancer families in this study has a stronger European genetic component than our control sample selected randomly from the Chilean population.
  • Thumbnail Image
    Item
    Paths and timings of the peopling of Polynesia inferred from genomic networks
    (2021) Ioannidis, Alexander G.; Blanco Portillo, Javier; Sandoval, Karla; Hagelberg, Erika; Barberena Jonas, Carmina; Hill, Adrian V. S.; Rodriguez Rodriguez, Juan Esteban; Fox, Keolu; Robson, Kathryn; Haoa Cardinali, Sonia; Quinto Cortes, Consuelo D.; Miquel Poblete, Juan Francisco; Auckland, Kathryn; Parks, Tom; Sofro, Abdul Salam M.; Ávila Arcos, Maria C.; Sockell, Alexandra; Homburger, Julian R.; Eng, Celeste; Huntsman, Scott; Burchard, Esteban G.; Gignoux, Christopher R.; Verdugo, Ricardo A.; Moraga, Mauricio; Bustamante, Carlos D.; Mentzer, Alexander J.; Moreno Estrada, Andrés
    Polynesia was settled in a series of extraordinary voyages across an ocean spanning one third of the Earth(1), but the sequences of islands settled remain unknown and their timings disputed. Currently, several centuries separate the dates suggested by different archaeological surveys(2-4). Here, using genome-wide data from merely 430 modern individuals from 21 key Pacific island populations and novel ancestry-specific computational analyses, we unravel the detailed genetic history of this vast, dispersed island network. Our reconstruction of the branching Polynesian migration sequence reveals a serial founder expansion, characterized by directional loss of variants, that originated in Samoa and spread first through the Cook Islands (Rarotonga), then to the Society (Totaiete ma) Islands (11th century), the western Austral (Tuha'a Pae) Islands and Tuamotu Archipelago (12th century), and finally to the widely separated, but genetically connected, megalithic statue-building cultures of the Marquesas (Te Henua 'Enana) Islands in the north, Raivavae in the south, and Easter Island (Rapa Nui), the easternmost of the Polynesian islands, settled in approximately ad 1200 via Mangareva.
  • No Thumbnail Available
    Item
    Polynesian ancestry in South America? A genomic insight from Mocha Island, Chile
    (WILEY, 2019) de la Fuente, Constanza; Campbell, Roberto; Santana, Francisca; Moraga, Mauricio; Willerslev, Eske