Browsing by Author "Waugh, Enrique"

Now showing items 1-8 of 8

    • 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 ...
    • Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR- 196a2, Pre-miR-423, miR-608 and ... 
      Morales, Sebastián; Gulppi, Felipe; González Hormazábal, Patricio; Fernández Ramires, Ricardo; Bravo, Teresa; Reyes, José; Poblete Gómez, Fernando Andrés; Waugh, Enrique; Jara Sosa, Lilian (BioMed Central, 2016)
      Background: MicroRNAs (miRNAs) are a novel class of endogenous, non-coding, single-stranded RNAs capable of regulating gene expression by suppressing translation or degrading mRNAs. Single nucleotide polymorphisms (SNP) ...
    • 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 ...
    • Heritable genomic diversity in breast cancer driver genes and associations with risk in a chilean population 
      Morales Pison, Sebastián Felipe; González Hormazábal, Patricio Andrés; Tapia Pineda, Julio César; Salas Burgos, Alexis Marcelo; Ampuero Llanos, Sandra Patricia; Gómez, Fernando; Waugh, Enrique; Reyes, José Miguel; Jara Sosa, Lilian Elena Jonasa (BMC, 2022)
      Background Driver mutations are the genetic components responsible for tumor initiation and progression. These variants, which may be inherited, influence cancer risk and therefore underlie many familial cancers. The present ...
    • 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 ...