<?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>0120-5552</journal-id>
<journal-title><![CDATA[Revista Salud Uninorte]]></journal-title>
<abbrev-journal-title><![CDATA[Salud, Barranquilla]]></abbrev-journal-title>
<issn>0120-5552</issn>
<publisher>
<publisher-name><![CDATA[Fundación Universidad del Norte, División de Ciencias de la]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-55522018000300766</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Genes de predisposición al cáncer de mama]]></article-title>
<article-title xml:lang="en"><![CDATA[Breast Cancer Predisposition Genes]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Orozco-Hernández]]></surname>
<given-names><![CDATA[Juan Pablo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Marín-Medina]]></surname>
<given-names><![CDATA[Daniel Stiven]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martínez-Muñoz]]></surname>
<given-names><![CDATA[Manuel A.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martínez]]></surname>
<given-names><![CDATA[José W.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Tecnológica de Pereira  ]]></institution>
<addr-line><![CDATA[Risaralda ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Tecnológica de Pereira  ]]></institution>
<addr-line><![CDATA[Risaralda ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Tecnológica de Pereira  ]]></institution>
<addr-line><![CDATA[Risaralda ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2018</year>
</pub-date>
<volume>34</volume>
<numero>3</numero>
<fpage>766</fpage>
<lpage>783</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-55522018000300766&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-55522018000300766&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-55522018000300766&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen El cáncer de mama es una enfermedad con una importante incidencia y mortalidad entre las mujeres. Los factores genéticos en su génesis aún no han sido reconocidos completamente, pero se admite el importante papel que juegan los genes de predisposición como el BRCA1 y BRCA2, y otros genes de reciente aparición, en las formas hereditarias y principalmente en el fenotipo triple negativo. El cáncer de mama hereditario representa entre un 5-10 % del total de casos de esta patología. BRCA1 y BRCA2 son genes de gran tamaño, y su principal función es mantener la integridad cromosómica, reparando rupturas de doble cadena del ADN por medio de recombinación homóloga. Los otros genes de predisposición en su mayoría cumplen una función en el mantenimiento y reparación del DNA. Actualmente existen pruebas para detección de mutaciones de estos genes en pacientes en riesgo, las cuales permiten implementar intervenciones médicas tempranas, el respaldo psicológico a la persona y la obtención de un diagnóstico más confiable; lo cual a largo plazo podría reducir los altos costos del cáncer. Entre las terapias disponibles para estos pacientes se encuentran desde cirugías preventivas como la mastectomía bilateral y la salpingo-ooforectomía hasta tratamientos farmacológicos como el uso de tamoxifeno, anticonceptivos orales o los recientes inhibidores de la PARP (Poly ADP Ribose Poymerase). Esta revisión pretende hacer énfasis en las características biológicas, genéticas, diagnósticas y terapéuticas del cáncer de mama hereditario para todo el personal de salud.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Breast cancer is a disease with a significant incidence and mortality among women. Genetic factors in its genesis have not yet been fully recognized, but the important role of predisposing genes such as BRCA1 and BRCA2, and other newly discovered genes in hereditary forms and mainly in the triple negative phenotype are recognized. Hereditary breast cancer represents between 5-10 % of the total cases of this pathology. BRCA1 and BRCA2 are large genes, and their main function is to maintain chromosomal integrity, repairing double strand breaks of DNA by means of homologous recombination. The other predisposing genes, for the most part, play a role in the maintenance and repair of DNA. Currently, there are tests to detect mutations of these genes in patients at risk, implementing early medical interventions, psychological support to the person and obtaining a more reliable diagnosis; which in the long run could reduce the high costs of cancer. Among the available therapies for these patients are preventive surgeries such as bilateral mastectomy and salpingo-oophorectomy, pharmacological treatments such as the use of tamoxifen, oral contraceptives or the recent PARP inhibitors (Poly ADP Ribose Poymerase). The objective of this review is to emphasize the biological, genetic, diagnostic and therapeutic aspects of hereditary breast cancer for all health workers.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Neoplasias de la mama]]></kwd>
<kwd lng="es"><![CDATA[gen BRCA1]]></kwd>
<kwd lng="es"><![CDATA[gen BRCA2]]></kwd>
<kwd lng="en"><![CDATA[Breast cancer]]></kwd>
<kwd lng="en"><![CDATA[BRCA1 gene]]></kwd>
<kwd lng="en"><![CDATA[BRCA2 gene]]></kwd>
</kwd-group>
</article-meta>
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