Browsing by Author "6bfbb7de-f5e1-4634-86aa-3c0fbb8b4544"

Now showing items 1-3 of 3

    • 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 ...
    • Variants in DNA double-strand break repair genes and risk of familial breast cancer in a South American population 
      Jara, Lilian; Dubois, Karen; Gaete, Daniel; De Mayo, Tomas; Ratkevicius, Nikalai; Bravo, Teresa; Margarit, Sonia; Blanco, Rafael; Gómez, Fernando; Waugh, Enrique; Peralta, Octavio; Reyes, Jose M.; Ibáñez, Gladys; González Hormazábal, Patricio (Springer New York, 2010)
      The double-strand break (DSB) DNA repair pathway has been implicated in breast cancer (BC). RAD51 and its paralogs XRCC3 and RAD51D play an important role in the repair of DSB through homologous recombination (HR). Some ...