<?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>1657-9534</journal-id>
<journal-title><![CDATA[Colombia Médica]]></journal-title>
<abbrev-journal-title><![CDATA[Colomb. Med.]]></abbrev-journal-title>
<issn>1657-9534</issn>
<publisher>
<publisher-name><![CDATA[Universidad del Valle]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1657-95342019000300163</article-id>
<article-id pub-id-type="doi">10.25100/cm.v50i3.2385</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[BRCA1 and BRCA2 mutations in a sample of breast and ovarian cancer families from the Colombian pacific]]></article-title>
<article-title xml:lang="es"><![CDATA[Mutaciones en los genes BRCA1 y BRCA2 en una muestra de familias con cáncer de mama y/u ovario del pacífico colombiano.]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cifuentes-C]]></surname>
<given-names><![CDATA[Laura]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rivera-Herrera]]></surname>
<given-names><![CDATA[Ana Lucia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Barreto]]></surname>
<given-names><![CDATA[Guillermo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad del Valle Departamento de Biología Human Molecular Genetics Lab]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2019</year>
</pub-date>
<volume>50</volume>
<numero>3</numero>
<fpage>163</fpage>
<lpage>175</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S1657-95342019000300163&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S1657-95342019000300163&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S1657-95342019000300163&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction:  Breast cancer is the most common neoplasia of women from all over the world especially women from Colombia. 5%­10% of all cases are caused by hereditary factors, 25% of those cases have mutations in the BRCA1/BRCA2 genes.  Objective:  The purpose of this study was to identify the mutations associated with the risk of familial breast and/or ovarian cancer in a population of Colombian pacific.  Methods:  58 high-risk breast and/or ovarian cancer families and 20 controls were screened for germline mutations in BRCA1 and BRCA2, by Single Strand Conformation Polymorphism (SSCP) and sequencing.  Results:  Four families (6.9%) were found to carry BRCA1 mutations and eight families (13.8%) had mutations in BRCA2. In BRCA1, we found three Variants of Uncertain Significance (VUS), of which we concluded, using in silico tools, that c.81­12C&gt;G and c.3119G&gt;A (p.Ser1040Asn) are probably deleterious, and c.3083G&gt;A (p.Arg1028His) is probably neutral. In BRCA2, we found three variants of uncertain significance: two were previously described and one novel mutation. Using in silico analysis, we concluded that c.865A&gt;G (p.Asn289Asp) and c.6427T&gt;C (p.Ser2143Pro) are probably deleterious and c.125A&gt;G (p.Tyr42Cys) is probably neutral. Only one of them has previously been reported in Colombia. We also identified 13 polymorphisms (4 in BRCA1 and 9 in BRCA2), two of them are associated with a moderate increase in breast cancer risk (BRCA2 c.1114A&gt;C and c.8755­66T&gt;C).  Conclusion:  According to our results, the Colombian pacific population presents diverse mutational spectrum for BRCA genes that differs from the findings in other regions in the country.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción:  El cáncer de mama es la neoplasia más común en mujeres de todo el mundo, y, también de Colombia. 5% a 10% de todos los casos son causados por factores hereditarios; 25% de estos casos tienen mutaciones en los genes BRCA1/BRCA2.  Objetivo:  El propósito de este estudio fue el de identificar mutaciones asociadas con riesgo de cáncer de mama y/u ovario familiar en pacientes del pacífico colombiano.  Métodos:  Fueron revisados para mutaciones en BRCA1 y BRCA2 de línea germinal mediante SSCP y secuenciación 58 familias de alto riesgo para cáncer de mama y/u ovario y 20 controles  Resultados:  cuatro familias (6.9%) presentaron mutaciones en BRCA1 y ocho familias (13.8%) en BRCA2. En BRCA1, encontramos tres variantes de significado clínico desconocido (VUS), de las cuales concluimos, usando herramientas bioinformáticas, que c.81­12C&gt;G y c.3119G&gt;A (p.Ser1040Asn) son probablemente deletéreas, y c.3083G&gt;A (p.Arg1028His) es probablemente neutral. En BRCA2, encontramos tres VUS: una mutación nueva y dos previamente descritas, usando análisis bioinformáticos, concluimos que c.865A&gt;G (p.Asn289Asp) y c.6427T&gt;C (p.Ser2143Pro) son probablemente deletéreas y c.125A&gt;G (p.Tyr42Cys) es probablemente neutral. Solo una de ellas ha sido reportada previamente en Colombia. También identificamos 13 polimorfismos (4 en BRCA1 y 9 en BRCA2), dos de ellos asociados con un moderado incremento del riesgo para cáncer de mama (BRCA2 c.1114A&gt;C and c.8755­66T&gt;C).  Conclusión:  de acuerdo con nuestros resultados, la población del suroccidente colombiano presenta un espectro mutacional diverso para los genes BRCA que difiere de lo encontrado en otras regiones del país.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Hereditary Breast and Ovarian Cancer Syndrome]]></kwd>
<kwd lng="en"><![CDATA[BRCA1]]></kwd>
<kwd lng="en"><![CDATA[BRCA2]]></kwd>
<kwd lng="en"><![CDATA[Germ-line mutations]]></kwd>
<kwd lng="en"><![CDATA[Colombia]]></kwd>
<kwd lng="es"><![CDATA[Síndrome de Cáncer de Mama y Ovario Hereditario]]></kwd>
<kwd lng="es"><![CDATA[BRCA1]]></kwd>
<kwd lng="es"><![CDATA[BRCA2]]></kwd>
<kwd lng="es"><![CDATA[Mutación de Línea Germinal]]></kwd>
<kwd lng="es"><![CDATA[Colombia]]></kwd>
</kwd-group>
</article-meta>
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