Browsing by Author "XX676455"

Now showing items 1-19 of 19

    • Absence of CHEK2 1100delC mutation in familial breast cancer cases from a South American population 
      González Hormazábal, Patricio; Castro, Víctor G.; Blanco Castillo, Rafael; Gómez, Fernando; Peralta Musre, Octavio; Waugh, Enrique; Bravo, Teresa; Reyes, José Miguel; Jara Sosa, Lilian (SPRINGER, 2008-08)
    • Association of common ATM variants with familial breast cancer in a South American population 
      González Hormazábal, Patricio; Bravo, Teresa; Blanco Castillo, Rafael; Valenzuela, Carlos Y.; Gómez, Fernando; Waugh, Enrique; Peralta Musre, Octavio; Ortúzar, Waldo; Reyes, José Miguel; Jara Sosa, Lilian (BIOMED CENTRAL LTD, 2008-04-23)
      Background: The ATM gene has been frequently involved in hereditary breast cancer as a low-penetrance susceptibility gene but evidence regarding the role of ATM as a breast cancer susceptibility gene has been contradicto ...
    • Association of genetic variants at TOX3, 2q35 and 8q24 with the risk of familial and early-onset breast ... 
      Elematore, Isabel; González Hormazábal, Patricio; Reyes, José M.; Blanco Castillo, Rafael; Bravo, Teresa; Peralta Musre, Octavio; Gómez, Fernando; Waugh, Enrique; Margarit, Sonia; Ibáñez, Gladys; Romero Osses, Carmen; Pakomio, Janara; Roizen, Rigia; Di Capua, Gabriella A.; Jara Sosa, Lilian (Springer, 2014)
      Recent Genome-Wide Association Studies have identified several single nucleotide polymorphisms (SNPs) associated with breast cancer (BC) among women of Asian, European, and African-American ancestry. Nevertheless, the ...
    • Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a ... 
      Leyton, Yessica; González Hormazábal, Patricio; Blanco Castillo, Rafael; Bravo, Teresa; Fernández Ramires, Ricardo; Morales, Sebastián; Landeros, Natalia; Reyes, José M.; Peralta Musre, Octavio; Tapia, Julio C.; Gómez, Fernando; Waugh, Enrique; Ibáñez, Gladys; Pakomio, Janara; Grau, Gilberto; Jara Sosa, Lilian (BioMed Central, 2015)
      Background Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer (BC) in several populations. Nevertheless its contribution in the South-American population is unknown. The goal ...
    • Calpainopathy in Chile, first cases reported 
      Bevilacqua, Jorge; Mathieu, Y.; Krahn, M.; Bartoli, M.; Castiglioni, C.; Kleinsteuber Saa, Karin; Díaz Jeraldo, Juan; Puppo, F.; Cerino, M.; Courrier, S.; Gorokhova, S.; Miranda Moreno, Natalia; Trangulao, Alejandra; González Hormazábal, Patricio; Avaria Benapres, María de los Angeles; Urtizberea, J.; Caviedes Fernández, Pablo; Jara Sosa, Lilian; Levy, N. (Pergamon-Elsevier Science, 2016)
    • Genetic variants in FGFR2 and MAP3K1 are associated with the risk of familial and early-onset breast cancer ... 
      Jara Sosa, Lilian; González Hormazábal, Patricio; Cerceño, Kerube; Di Capua, Gabriella A.; Reyes, José M.; Blanco Castillo, Rafael; Bravo, Teresa; Peralta Musre, Octavio; Gómez, Fernando; Waugh, Enrique; Margarit, Sonia; Gladys, Ibáñez; Romero Osses, Carmen; Pakomio, Janara; Roizen, Gigia (SPRINGER, 2012-12-07)
      Genome-Wide Association Studies have identified several loci associated with breast cancer (BC) in populations of different ethnic origins. One of the strongest associations was found in the FGFR2 gene, and MAP3K1 has ...
    • Genetic variants in pre-miR-146a, pre-miR-499, pre-miR-125a, pre-miR-605, and pri-miR-182 are associated ... 
      Morales, Sebastián; De Mayo, Tomas; Gulppi, Felipe Andrés; González Hormazábal, Patricio; Carrasco, Valentina; Reyes, José Miguel; Gómez, Fernando; Waugh, Enrique; Jara, Lilian (MDPI AG, 2018)
      © 2018 by the authors. Licensee MDPI, Basel, Switzerland. Breast cancer (BC) is one of the most frequent tumors affecting women worldwide. microRNAs (miRNAs) single-nucleotide polymorphisms (SNPs) likely contribute to BC ...
    • Germline variants in driver genes of breast cancer and their association with familial and early-onset ... 
      Fernández Moya, Alejandro; Morales, Sebastián; Arancibia, Trinidad; González Hormazábal, Patricio; Tapia, Julio; Godoy Herrera, Raúl; Reyes, José Miguel; Gómez, Fernando; Waugh, Enrique; Jara Sosa, Lilian (MDPI, 2020)
      The genetic variations responsible for tumorigenesis are called driver mutations. In breast cancer (BC), two studies have demonstrated that germline mutations in driver genes linked to sporadic tumors may also influence ...
    • Identification of novel variations in microRNAs genes as familial breast cancer susceptibility variants in ... 
      Landeros, Natalia; Tapia Pineda, Julio; González Hormazábal, Patricio; Jara Sosa, Lilian (Spandidos Publications Ltd., 2017)
    • IL-8-251T>A (rs4073) polymorphism is associated with prognosis in gastric cancer patients 
      González Hormazábal, Patricio; Romero, Sandra; Musleh, Maher; Bustamante, Marco; Stambuk, Juan; Pisano, Raul; Lanzarini, Enrique; Chiong, Hector; Rojas, Jorge; Castro, Victor Gonzalo; Jara, Lilian; Berger, Zoltan (International Institute of Anticancer Research, 2018)
      © 2018 International Institute of Anticancer Research. All rights reserved. Background/Aim: Inflammation is a key process in gastric carcinogenesis. Cytokines are mediators of inflammation and are involved in metastasis ...
    • Nijmegen breakage syndrome: follow up of seven cases in Chile 
      Aracena, M.; Cares, C.; Arredondo, S.; Marcelain Cubillos, Katherine; González Hormazábal, Patricio (Wiley, 2018)
    • Polymorphisms PSCA rs2294008, IL-4 rs2243250 and MUC1 rs4072037 are associated with gastric cancer in a ... 
      González Hormazábal, Patricio; Retamales Ortega, Rocío; Musleh Katan, Maher; Bustamante, Marco; Stambuk, Juan; Pisano, Raúl; Valladares Hernández, Héctor; Lanzarini Sobrevía, Enrique; Chiong Tello, Héctor; Suazo, José; Quiñones Sepúlveda, Luis; Varela Figueroa, Nelson; Castro, Gonzalo; Jara, Lilian; Verdugo Salgado, Ricardo; Berger, Zoltan (Springer, 2020)
      Genetic variants are considered risk factors for gastric cancer. To date, 61 polymorphisms have been identified as associated with this disease. The aim of the present study was to analyze the association of some of those ...
    • Preliminary evaluation of DNA damage related with the smoking habit measured by the comet assay in whole ... 
      Pérez Alzola, Luz Patricia; Farfán Urzúa, Mauricio Javier; González Hormazábal, Patricio; Garay, Marta; Olmedo, María Isabel; Ellahueñe Manquian, Manuel; Last, Jerold A. (2004-07)
      The alkaline single-cell gel electrophoresis (SCGE) assay, also called the comet assay, is a rapid and simple method for the detection of DNA damage in individual cells. The objective of this study was to establish if ...
    • Prevalence of clarithromycin resistance in Helicobacter pylori in Santiago, Chile, estimated by real-time ... 
      González Hormazábal, Patricio; Musleh Katan, Maher; Escandar, S.; Valladares Hernández, Héctor; Lanzarini Sobrevia, Enrique; Castro, V. G.; Jara, Lilian; Berger, Zoltan (BMC, 2018-06-20)
      Background: Current available treatments for Helicobacter pylori eradication are chosen according to local clarithromycin and metronidazole resistance prevalence. The aim of this study was to estimate, by means of molecular ...
    • Prevalence of resistance of Helicobacter pylori to clarithromycin in Santiago, Chile 
      González Hormazábal, Patricio; Castro, V. G.; Musleh Katan, Maher; Lanzarini Sobrevía, Enrique; Valladares Hernández, Héctor; Escandar, S.; Dr Berger, Zoltan (2016)
    • Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families 
      González Hormazábal, Patricio; Gutiérrez Enriquez, Sara; Gaete, Daniel; Reyes, José M.; Peralta Musre, Octavio; Waugh, Enrique; Gómez, Fernando; Margarit, Sonia; Bravo, Teresa; Blanco Castillo, Rafael; Diez, Orland; Jara Sosa, Lilian (SPRINGER, 2011-04)
      The distribution of BRCA1/2 germline mutations in breast/ovarian cancer (BC/OC) families varies among different populations. In the Chilean population, there are only two reports of mutation analysis of BRCA1/2, and these ...
    • The BARD1 Cys557Ser variant and risk of familial breast cancer in a South-American population 
      González Hormazábal, Patricio; Reyes, Jose M.; Blanco, Rafael; Bravo, Teresa; Carrera, Ignacio; Peralta, Octavio; Gomez, Fernando; Waugh, Enrique; Margarit, Sonia; Ibañez, Gladys; Santos, José Luis; Jara, Lilian (2012)
      Since the discovery of the BRCA1 and BRCA2 genes, much work has been carried out to identify further breast cancer (BC) susceptibility genes. BARD1 (BRCA1-associated ring domain) was originally identified as a BRCA1-interacting ...
    • The phylogeographic diversity of EBV and admixed ancestry in the americas–another model of disrupted ... 
      Corvalán, Alejandro H.; Ruedlinger, Jenny; de Mayo, Tomas; Polakovicova, Iva; González Hormazábal, Patricio; Aguayo, Francisco (MDPI AG, 2019)
      Epstein-Barr virus (EBV) is an etiological agent for gastric cancer with significant worldwide variations. Molecular characterizations of EBV have shown phylogeographical variations among healthy populations and in ...
    • Untitled 
      Salamanca, Carlos; González Hormazábal, Patricio; Recabarren, Andrea S.; Recabarren, Pamela A.; Pantoja, Roberto; Leiva Villagra, Noemí; Pardo Vargas, Rosa; Suazo Sanhueza, José Lorenzo (2020)
      Background TheS-adenosyl-methionine (SAM) availability is crucial for DNA methylation, an epigenetic mechanism involved in nonsyndromic cleft lip with or without cleft palate (NSCL/P) expression. The aim of this study was ...