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Author: search.filters.author.Ricardo Fernández-RamiresHas files: No

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    Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community
    (2024)
    Ricardo Fernández-Ramires
    ;
    Sebastián Morales-Pison
    ;
    Guilherme Gischkow Rucatti
    ;
    César Echeverría
    ;
    Esteban San Martín
    Scopus© Citations 3
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    Genetic and epigenetic landscape of early-onset oral squamous cell carcinoma: Insights of genomic underserved and underrepresented populations
    (2024)
    Daniela Adorno-Farias
    ;
    Sebastián Morales-Pisón
    ;
    Guilherme Gischkow-Rucatti
    ;
    Sonia Margarit
    ;
    Ricardo Fernández-Ramires
    Scopus© Citations 8  1
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    Consenso para la consejería genética y diagnóstico molecular oncológicos: Declaración de Punta Arenas
    (2023)
    Ricardo Fernández-Ramires
    ;
    Sonia Margarit
    ;
    Sebastián Morales
    ;
    Conxi Lazaro
    ;
    Sara Álvarez
      7Scopus© Citations 1
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    SPINK7 expression changes accompanied by HER2, P53 and RB1 can be relevant in predicting oral squamous cell carcinoma at a molecular level
    (2021)
    Gina Pennacchiotti
    ;
    Fabio Valdés-Gutiérrez
    ;
    Wilfredo Alejandro González-Arriagada
    ;
    Héctor Federico Montes
    ;
    Judith Maria Roxana Parra
    <jats:title>Abstract</jats:title><jats:p>The oral squamous cell carcinoma (OSCC), which has a high morbidity rate, affects patients worldwide. Changes in SPINK7 in precancerous lesions could promote oncogenesis. Our aim was to evaluate SPINK7 as a potential molecular biomarker which predicts OSCC stages, compared to: HER2, TP53, RB1, NFKB and CYP4B1. This study used oral biopsies from three patient groups: dysplasia (n = 33), less invasive (n = 28) and highly invasive OSCC (n = 18). The control group consisted of clinically suspicious cases later to be confirmed as normal mucosa (n = 20). Gene levels of <jats:italic>SPINK7, P53, RB, NFKB</jats:italic> and <jats:italic>CYP4B1</jats:italic> were quantified by qPCR. <jats:italic>SPINK7</jats:italic> levels were correlated with a cohort of 330 patients from the TCGA. Also, SPINK7, HER2, TP53, and RB1, were evaluated by immunohistofluorescence. One-way Kruskal–Wallis test and Dunn's <jats:italic>post-hoc</jats:italic> with a <jats:italic>p</jats:italic> &lt; 0.05 significance was used to analyze data. In OSCC, the <jats:italic>SPINK7</jats:italic> expression had down regulated while <jats:italic>P53, RB, NFKB</jats:italic> and <jats:italic>CYP4B1</jats:italic> had up regulated (<jats:italic>p</jats:italic> &lt; 0.001). <jats:italic>SPINK7</jats:italic> had also diminished in TCGA patients (<jats:italic>p</jats:italic> = 2.10e-6). In less invasive OSCC, SPINK7 and HER2 proteins had decreased while TP53 and RB1 had increased with respect to the other groups (<jats:italic>p</jats:italic> &lt; 0.05). The changes of SPINK7 accompanied by HER2, P53 and RB1 can be used to classify the molecular stage of OSCC lesions allowing a diagnosis at molecular and histopathological levels. </jats:p>
    Scopus© Citations 16  1