<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1816-8949</journal-id>
<journal-title><![CDATA[Anales de la Facultad de Ciencias Médicas (Asunción)]]></journal-title>
<abbrev-journal-title><![CDATA[An. Fac. Cienc. Méd. (Asunción)]]></abbrev-journal-title>
<issn>1816-8949</issn>
<publisher>
<publisher-name><![CDATA[EFACIM. Editorial de la Facultad de Ciencias Médicas - Universidad Nacional de Asunción]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1816-89492025000300017</article-id>
<article-id pub-id-type="doi">10.18004/anales/2025.058.03.17</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Mutaciones genéticas en pacientes con cáncer de mama en Paraguay]]></article-title>
<article-title xml:lang="en"><![CDATA[Mutations in Patients with Breast Cancer in Paraguay]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sanabria Zuzulich]]></surname>
<given-names><![CDATA[Valeria]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martínez]]></surname>
<given-names><![CDATA[Patricia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[López Fernández]]></surname>
<given-names><![CDATA[Roberto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Collante]]></surname>
<given-names><![CDATA[Analía]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Nacional de Asunción Facultad de Ciencias Médicas Hospital de Clínicas, Unidad de Enfermedades Mamarias]]></institution>
<addr-line><![CDATA[San Lorenzo ]]></addr-line>
<country>Paraguay</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2025</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2025</year>
</pub-date>
<volume>58</volume>
<numero>3</numero>
<fpage>17</fpage>
<lpage>25</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_arttext&amp;pid=S1816-89492025000300017&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_abstract&amp;pid=S1816-89492025000300017&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_pdf&amp;pid=S1816-89492025000300017&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  La identificación de mutaciones genéticas germinales en pacientes con cáncer de mama (BRCA1/2, PAB2,TP53, entre otros) es fundamental para comprender la etiología del cáncer de mama, especialmente en poblaciones con predisposición familiar y es crucial para la evaluación y el manejo del riesgo en pacientes con cáncer de mama. La prevalencia de estas mutaciones puede variar ampliamente entre diferentes poblaciones. En Paraguay aún no se conoce esa prevalencia, debido a la falta de una base de datos de mutaciones genéticas germinales halladas en la población y la falta de publicaciones al respecto.  Objetivo:  Describir las mutaciones germinales halladas en estudio genético de mujeres con cáncer de mama en Paraguay, vistas en consulta de asesoramiento genético de 3 centros hospitalarios.  Material y Métodos:  Es un estudio observacional, descriptivo, retrospectivo, multicéntrico, de hallazgos de mutaciones germinales en pacientes con cáncer de mama desde diciembre 2020 hasta diciembre 2024.  Resultados:  69 pacientes con cáncer de mama fueron testeadas. Mutaciones en los genes BRCA2 (12,5 %) y PALB2 (9,4 %) fueron más frecuentes. La mayoría de las mutaciones fueron VUS (31,9 %), seguidas de hallazgos patogénicos (14,5 %). Los genes de alto riesgo mostraron una relación significativa con los hallazgos patogénicos.  Conclusión:  La frecuencia de mutaciones en PALB2 fue significativa y similar a la de BRCA2, sobre todo, en pacientes menores de 45 años con tumores Luminales y antecedentes familiares de cáncer. Si bien la mayoría de los hallazgos fueron VUS, los genes de alto riesgo mostraron una relación significativa con los hallazgos patogénicos.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  Identification of germline genetic mutations in patients with breast cancer (BRCA1/2, PALB2, TP53, among others) is essential to understanding the etiology of breast cancer, especially in populations with familial predisposition, and is crucial for risk assessment and management in patients with breast cancer. The prevalence of these mutations may vary widely among different populations. In Paraguay, this prevalence is still unknown due to the lack of a database of germline genetic mutations identified in the population and the absence of related publications.  Objective:  To describe the germline mutations identified through genetic testing in women with breast cancer in Paraguay who were evaluated in genetic counseling clinics at three hospital centers.  Materials and Methods:  This was an observational, descriptive, retrospective, multicenter study of germline mutation findings in patients with breast cancer from December 2020 to December 2024.  Results:  Sixty-nine patients with breast cancer were tested. Mutations in the BRCA2 (12.5%) and PALB2 (9.4%) genes were the most frequent. Most mutations were variants of uncertain significance (VUS) (31.9%), followed by pathogenic findings (14.5%). High-risk genes showed a significant association with pathogenic findings.  Conclusion:  The frequency of PALB2 mutations was significant and similar to that of BRCA2 mutations, particularly in patients younger than 45 years with luminal tumors and a family history of cancer. Although most findings were VUS, high-risk genes showed a significant association with pathogenic findings.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[cáncer]]></kwd>
<kwd lng="es"><![CDATA[mama]]></kwd>
<kwd lng="es"><![CDATA[variantes]]></kwd>
<kwd lng="es"><![CDATA[patogénicas]]></kwd>
<kwd lng="es"><![CDATA[germinal]]></kwd>
<kwd lng="en"><![CDATA[cancer]]></kwd>
<kwd lng="en"><![CDATA[breast]]></kwd>
<kwd lng="en"><![CDATA[variants]]></kwd>
<kwd lng="en"><![CDATA[pathogenic]]></kwd>
<kwd lng="en"><![CDATA[germline]]></kwd>
</kwd-group>
</article-meta>
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