Browsing by Author "Manzor Véliz, Manuel"

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    Access disparities and underutilization of germline genetic testing in Chilean breast cancer patients
    (2023) Acevedo Claros, Francisco Nicolás; Walbaum García, Benjamín Vicente; Camus Appuhn, Mauricio Gonzalo; Manzor Véliz, Manuel; Muñiz Muñoz, María Sabrina; Medina Araya, Lidia; Petric Guajardo, Militza Paulina; Reyes, Paula; Domínguez, Francisco; Puschel Illanes, Klaus; Merino Lara, Tomás Rodrigo; Bravo, M. Loreto; Pinto, Mauricio P.; Ibáñez, Carolina; Hughes, Kevin; Sánchez Rojel, César Giovanni
    Purpose Latin American reports on genetic cancer risk assessments are scarce. In Chile, current breast cancer (BC) guidelines do not define strategies for germline genetic testing. Our study sought to quantify the disparities in access to genetic testing in Chilean BC patients, according to international standards and their clinical characteristics to explore improvement strategies.Methods Retrospective analysis of invasive BC databases including patients treated in a Public Hospital (PH) and in an Academic Private Center (AC) in Santiago, Chile between 2012 and 2021.Results Of 5438 BC patients, 3955 had enough data for National Comprehensive Cancer Network (NCCN) categorization. From these, 1911 (48.3%) fulfilled NCCN criteria for germline testing, of whom, 300 were tested for germline mutations and 268 with multigene panels. A total of 65 pathogenic variants were found in this subset. As expected, BRCA1/2 mutations were the most frequent (17.7%). Access to genetic testing was higher in AC versus PH (19.6% vs. 10.3%, p = 0.0001). Other variables associated with germline genetic testing were BC diagnosis after 2018, being 45 years old or younger at diagnosis, BC family history (FH), FH of ovarian cancer, non-metastatic disease, and triple-negative subtype.Conclusion In our cohort, 15% of BC patients who met NCCN criteria for germline testing were effectively tested. This percentage was even lower at the PH. Current recommendations encourage universal genetic testing for BC patients; however, our findings suggest that Chile is far from reaching such a goal and national guidelines in this regard are urgently needed. To our knowledge, this is the first study of its kind in Chile and Latin America.
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    Carcinoma escamoso de la conjuntiva con compromiso extraocular : reporte de caso y revision de la literatura
    (2016) Goñi Espíldora, Ignacio; Jans, Jaime; Petric Guajardo, Militza; Manzor Véliz, Manuel; Flores Pérez, Juan Carlos; Varas Marchant, Gonzalo; Muñoz Schuffenegger, Pablo; Zoroquiain Vélez, José Pablo