<?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>1659-0201</journal-id>
<journal-title><![CDATA[Población y Salud en Mesoamérica]]></journal-title>
<abbrev-journal-title><![CDATA[PSM]]></abbrev-journal-title>
<issn>1659-0201</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Costa Rica. Centro Centroamericano de Población]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1659-02012016000200006</article-id>
<article-id pub-id-type="doi">10.15517/psm.v14i1.25016</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Frecuencia de las mutaciones en los genes BRCA en mujeres con agregación familiar de cáncer de glándula mamaria/ovario]]></article-title>
<article-title xml:lang="en"><![CDATA[Frequency of mutations in the BRCA genes in women with a familial aggregation of mammary gland/ovarian cancer]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Benavides-Cerquera]]></surname>
<given-names><![CDATA[Jennyfer Dahianna]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bohórquez-Lozano]]></surname>
<given-names><![CDATA[Mabel Elena]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Prada-Quiroga]]></surname>
<given-names><![CDATA[Carlos Fernando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Carvajal-Carmona]]></surname>
<given-names><![CDATA[Luis]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Echeverry de Polanco]]></surname>
<given-names><![CDATA[María Magdalena]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad del Tolima Grupo de Citogenética, Filogenia y Evolución de Poblaciones ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>CO</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad del Tolima Grupo de Citogenética, Filogenia y Evolución de Poblaciones ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>CO</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad del Tolima Grupo de Citogenética, Filogenia y Evolución de Poblaciones ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>CO</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad del Tolima Grupo de Citogenética, Filogenia y Evolución de Poblaciones ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>CO</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Universidad del Tolima Grupo de Citogenética, Filogenia y Evolución de Poblaciones ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>CO</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2016</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2016</year>
</pub-date>
<volume>14</volume>
<numero>1</numero>
<fpage>6</fpage>
<lpage>31</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_arttext&amp;pid=S1659-02012016000200006&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_abstract&amp;pid=S1659-02012016000200006&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_pdf&amp;pid=S1659-02012016000200006&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen:OBJETIVO:Reunir evidencias de la variación en la frecuencia de las mutaciones de BRCA1 y BRCA2 y la historia familiar en pacientes con cáncer de glándula mamaria (CGM) y cáncer de ovario (CO) de diferentes orígenes geográficos.MÉTODO:En este trabajo se realizó una revisión sistemática, siguiendo los parámetros del protocolo PRISMA, para estimar la prevalencia de mutaciones en los genes BRCA 1/2 en pacientes con CGM y CO, la incidencia de la historia familiar y la prevalencia observada en casos esporádicos en este tipo de cáncer.RESULTADOS:Se observa una heterogeneidad en la frecuencia de las mutaciones de estos genes en los estudios de historia familiar, con una variación entre 0.0 y 0.48 en pacientes y familiares con CGM y CO similares a los previamente reportados.DISCUSIÓN: Este amplio rango de la frecuencia se debe al origen de la población estudiada, el número de individuos analizados y la metodología de genotipificación utilizada. La revisión revela que el CGM y CO familiar es dos veces más frecuente, en comparación con los casos de esta misma patología con origen esporádico.CONCLUSIONES:Este tipo de estudios moleculares les permite a las personas que presentan historia familiar con CGM y CO realizarse análisis precoces y chequeos para prevenir en un futuro el desarrollo de alguna de estas neoplasias.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract:OBJECTIVE:Collect evidence about the frequency variation of BRCA1 and BRCA2 mutations and family history in patients with mammary gland cancer (MGC) and ovarian cancer (OC) from different geographical backgrounds.METHOD: This paper presents a systematic review using the PRISMA protocol parameters to estimate the prevalence of mutations in BRCA 1/2 genes in patients with MGC and OC, the incidence of family history and the observed prevalence in sporadic cases with this type of cancer.RESULTS:Heterogeneity is observed in the frequency of mutations of these genes in studies of family history ranging between 0.0 and 0.48 in patients and families with MGC and OC similar to those previously reported.DISCUSSION:This wide range of frequency is due to the origin of the studied population, the number of individuals analyzed and genotyping methodology used. The review reveals that the family MGC and OC is twice as common compared with cases of the same disease of a sporadic origin.CONCLUSIONS: This type of molecular studies allows other people who have family history of MGC and OC to perform early analysis and tests to prevent the future development of this neoplasia.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[neoplasias de la mama]]></kwd>
<kwd lng="es"><![CDATA[neoplasias ováricas]]></kwd>
<kwd lng="es"><![CDATA[gen BRCA1]]></kwd>
<kwd lng="es"><![CDATA[gen BRCA2]]></kwd>
<kwd lng="es"><![CDATA[mutación]]></kwd>
<kwd lng="es"><![CDATA[herencia]]></kwd>
<kwd lng="en"><![CDATA[breast neoplasms]]></kwd>
<kwd lng="en"><![CDATA[ovarian neoplasms]]></kwd>
<kwd lng="en"><![CDATA[BRCA1 gene]]></kwd>
<kwd lng="en"><![CDATA[BRCA2 gene]]></kwd>
<kwd lng="en"><![CDATA[mutation, heredity]]></kwd>
</kwd-group>
</article-meta>
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