• Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer 

      Norero, Enrique; Alarcón, M. Alejandra; Hakkaart, Christopher; de Mayo, Tomás [Univ Mayor Santiago Chile, Fac Sci, Sch Med, Chile]; Mellado, Cecilia; Garrido, Marcelo; Aguayo, Gloria; Lagos, Marcela; Torres, Javiera; Calvo, Alfonso; Guilford, Parry; Corvalán, Alejandro H. (Chile. Universidad Mayor, 2019)
      Germline pathogenic variants in the CDH1 gene are a well-established cause of hereditary diffuse gastric cancer (HDGC) syndrome. The aim of this study was to characterize CDH1 mutations associated with HDGC from Chile, a ...
    • The Reprimo-Like Gene Is an Epigenetic-Mediated Tumor Suppressor and a Candidate Biomarker for the Non-Invasive Detection of Gastric Cancer 

      Alejandra Alarcón, Maria; Olivares, Wilda; Cordova-Delgado, Miguel; Muñoz-Medel, Matías; Mayo, Tomas de [Univ Mayor, Fac Sci, Sch Med, Chile]; Carrasco-Avino, Gonzalo; Wichmann, Ignacio; Landeros, Natalia; Amigo, Julio; Norero, Enrique; Villarroel-Espindola, Franz; Riquelme, Arnoldo; Garrido, Marcelo; Owen, Gareth, I.; Corvalan, Alejandro H. (MDPI Multidisciplinary Digital Publishing Institute, 2020-12)
      Reprimo-like (RPRML) is an uncharacterized member of the Reprimo gene family. Here, we evaluated the role of RPRML and whether its regulation by DNA methylation is a potential non-invasive biomarker of gastric cancer. RPRML ...


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