Browsing by Author "Blanco Castillo, Rafael"

Now showing items 1-11 of 11

    • 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 ...
    • BRCA1 and BRCA2 mutations in a South American population 
      Jara Sosa, Lilian; Ampuero Llanos, Sandra; Santibáñez, Eudocia; Seccia, Lorena; Rodríguez, Juan; Bustamante, Mario; Martínez, Víctor; Catenaccio, Alejandra; Lay-Son, Guillermo; Blanco Castillo, Rafael; Reyes, José Miguel (ELSEVIER, 2006-04-01)
      A sample of 64 high-risk breast and/or ovarian cancer families from Chile were screened for germline mutations in the coding sequences and exon-intron boundaries of BRCA1 (MIN no. 113705) and BRCA2 (MIN no. 600185) genes ...
    • Estudio de asociación de base familiar entre polimorfismos de MTHFR y mielomeningocele en Chile 
      Pardo Vargas, Rosa; Suazo, José; Castillo Taucher, Silvia; Vargas, Marcela; Zalavaria, Andrea; Santos, José Luis; Blanco Castillo, Rafael; Rotter, Karin; Solar, Margarita; Tapia, Eva (Universidad de Chile, 2014)
      Background: Mandatory fortification with folic acid (FA) was implemented in Chile in 2000. Thereafter, the rate of spina bifida decreased by 52 to 55%. Genetic abnormalities in folate metabolism may be involved in the ...
    • Fisura labiopalatina no sindrómica (FLPNS) : análisis molecular del gen candidato sonic hedgehog (SHH) ... 
      Rincón Rodriguez, Ramiro Javier (Universidad de Chile, 2008)
      lntroducción: La fisura labiopalatina no sindrómica (FLPNS) es una malformación congénita, producida por alteraciones en la fusión de procesos faciales y/o palatinos durante la vida intrauterina. Se ha postulado que en ...
    • 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 ...
    • Linkage Disequilibrium Between IRF6 Variants and Nonsyndromic Cleft Lip/Palate in the Chilean Population 
      Suazo, José; Santos, José Luis; Jara Sosa, Lilian; Blanco Castillo, Rafael (WILEY-LISS, DIV JOHN WILEY & SONS INC, 2008-10-15)
    • Maternal obesity is a risk factor for orofacial clefts: a meta-analysis 
      Blanco Castillo, Rafael; Colombo Flores, Alicia; Suazo Sanhueza, José Lorenzo (Elsevier, 2015)
      Orofacial clefts are the most prevalent birth defects that affect craniofacial structures and implicate genetic and environmental factors in their aetiology. Maternal metabolic state and nutrition have been related to these ...
    • 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 ...