<?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>1688-0390</journal-id>
<journal-title><![CDATA[Revista Médica del Uruguay]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. Méd. Urug.]]></abbrev-journal-title>
<issn>1688-0390</issn>
<publisher>
<publisher-name><![CDATA[Sindicato Médico del Uruguay]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1688-03902022000401206</article-id>
<article-id pub-id-type="doi">10.29193/rmu.38.4.6</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Tamizaje para cáncer de mama con resonancia magnética en mujeres portadoras de mutaciones BRCA y no-BRCA]]></article-title>
<article-title xml:lang="en"><![CDATA[Magnetic resonance imaging breast cancer screening in women who are carriers of BRCA and non-BRCA gene mutations]]></article-title>
<article-title xml:lang="pt"><![CDATA[Rastreamento de câncer de mama com ressonância magnética em mulheres com mutações BRCA e não BRCA]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Acevedo]]></surname>
<given-names><![CDATA[Carlos]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Neffa]]></surname>
<given-names><![CDATA[Florencia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Lavista]]></surname>
<given-names><![CDATA[Fernando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Milans]]></surname>
<given-names><![CDATA[Soledad]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Nuñez]]></surname>
<given-names><![CDATA[Elisa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Santander]]></surname>
<given-names><![CDATA[Guianeya]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vergara]]></surname>
<given-names><![CDATA[Carolina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Carusso]]></surname>
<given-names><![CDATA[Florencia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fernández]]></surname>
<given-names><![CDATA[Daniela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Valle]]></surname>
<given-names><![CDATA[Adriana Della]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Esperon]]></surname>
<given-names><![CDATA[Patricia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Dirección Nacional de Sanidad de las Fuerzas Armadas  ]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de la República Facultad de Química ]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Dirección Nacional de Sanidad de las Fuerzas Armadas Servicio de Oncología ]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Dirección Nacional de Sanidad de las Fuerzas Armadas Servicio de Mastología ]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Dirección Nacional de Sanidad de las Fuerzas Armadas Servicio de Imagenología ]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Universidad de la República Facultad de Medicina Hospital de Clínicas]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2022</year>
</pub-date>
<volume>38</volume>
<numero>4</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S1688-03902022000401206&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S1688-03902022000401206&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S1688-03902022000401206&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen:  Introducción: la predisposición hereditaria causada por mutaciones patogénicas de la línea germinal (MPG) explica hasta el 10% de los cánceres de mama. Para reducir su impacto en mujeres mutadas se han propuesto diferentes estrategias, tales como las cirugías reductoras de riesgo o el screening con resonancia magnética (RM) de mamas.  Métodos: en este estudio observacional retrospectivo se analizaron los registros de mujeres portadoras de MPG para evaluar las diferentes acciones tomadas luego del test genético. A las pacientes no mastectomizadas se les recomendó ingresar a un programa anual de cribado con RM y se evaluó el porcentaje de adherencia al plan, el número de biopsias efectuadas y el número de cánceres de mama detectados.  Resultados: se incluyeron 134 mujeres con MPG, con una distribución en tercios iguales de los genes BRCA1, BRCA2 y genes no-BRCA. Entre las mutadas con indicación de seguimiento, 64% ingresaron al programa de cribado con RM. Las razones que llevaron a las mujeres a no ingresar al programa de seguimiento fueron: la oposición del médico tratante (53%), oposición de la paciente (38%), y falta de recursos (9%). Se realizaron seis biopsias por hallazgos en la RM entre las cuales se detectó un cáncer de mama. La incidencia de cáncer fue de 11 cada 1.000 mujeres-años de riesgo.  Conclusiones: nuestro programa de seguimiento con RM de pacientes mutadas logró captar un porcentaje alto de candidatas. Una proporción significativa de las mujeres no ingresó debido la desaprobación del médico tratante o de la propia paciente. La evidencia obtenida revela una necesidad imperiosa de reforzar los programas educativos que destaquen la importancia del seguimiento con RM de las pacientes de alto riesgo en nuestro país.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Summary:  Introduction:  genetic propensity caused by germline pathogenic mutations explain up to 10% of breast cancer cases. Different strategies have been proposed to reduce its impact on women who are carriers of mutations, such as risk-reducing surgeries or breast magnetic resonance screening.  Method: observational, retrospective study analyzing the medical records of women who are carriers of germline pathogenic mutations to assess the different measures taken after the genetic test. Non-mastectomized patients were advised to join an annual MRI screening program and the percentage of adherence to plan was evaluated, along with biopsies performed and the number of breast cancer cases detected.  Results:  134 women carriers of germline pathogenic mutations were included in the study, with equal distributions in thirds for BRCA1, BRCA2 and non-BRCA genes. 64% of carriers of mutations who were subject to follow-up checkups joined the RMI screening program. The reasons why women failed to join the follow-up program were: the treating physician objected to the program (53%), the patients opposed to program (38%) and lack of resources (9%). Six biopsies were performed as a consequence of findings in the RMI, and one case of breast cancer was detected. Cancer incidence was 11 out of 1000 women - risk years.  Conclusions:  our RMI follow-up program for women who are carriers of mutations managed to attract a high percentage of candidates. A significant amount of women failed to join the program because of their treating physician&#8217;s or their own disapproval. Evidence obtained reveals the dramatic need to reinforce educational programs that emphasize on the importance of RMI follow-up of high risk patients in our country.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo:  Introdução:  a predisposição hereditária causada por mutações germinativas patogênicas (GMP) explica até 10% dos cânceres de mama. Para reduzir seu impacto em mulheres com mutações, diferentes estratégias têm sido propostas, como cirurgias de redução de risco ou ressonância magnética (RM) das mamas.  Métodos: neste estudo observacional retrospectivo, os registros de mulheres portadoras de MPG foram analisados para avaliar as diferentes ações tomadas após o teste genético. Pacientes não mastectomizadas foram recomendadas a entrar em um programa anual de triagem por ressonância magnética e foram avaliados o percentual de adesão ao plano, o número de biópsias realizadas e o número de cânceres de mama detectados.  Resultados: foram incluídas 134 mulheres com MPG, com uma distribuição de terços iguais dos genes BRCA1, BRCA2 e não-BRCA. Entre as mulheres com mutações com indicação de acompanhamento, 64% entraram no programa de triagem por ressonância magnética. Os motivos que levaram as mulheres a não ingressarem ao programa de acompanhamento foram: oposição do médico assistente (53%), oposição da paciente (38%) e falta de recursos (9%). Seis biópsias foram realizadas devido a achados de ressonância magnética, entre os quais foi detectado um câncer de mama. A incidência de câncer foi de 11 por 1.000 mulheres-ano de risco.  Conclusões: nosso programa de acompanhamento de ressonância magnética para pacientes com mutação conseguiu capturar uma alta porcentagem de candidatas. Uma proporção significativa de mulheres não entrou devido à falta de aprovação do médico assistente ou da própria paciente. As evidências obtidas revelam a necessidade urgente de reforçar programas educacionais que destaquem a importância do acompanhamento por RM de pacientes de alto risco no Uruguai.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Neoplasias de la mama]]></kwd>
<kwd lng="es"><![CDATA[Resonancia magnética]]></kwd>
<kwd lng="es"><![CDATA[Genes BRCA1]]></kwd>
<kwd lng="es"><![CDATA[Genes BRCA2]]></kwd>
<kwd lng="es"><![CDATA[Mutación]]></kwd>
<kwd lng="es"><![CDATA[Mujeres]]></kwd>
<kwd lng="en"><![CDATA[Breast neoplasms]]></kwd>
<kwd lng="en"><![CDATA[Magnetic resonance]]></kwd>
<kwd lng="en"><![CDATA[BRCA1 Genes]]></kwd>
<kwd lng="en"><![CDATA[BRCA2 Genes]]></kwd>
<kwd lng="en"><![CDATA[Mutation]]></kwd>
<kwd lng="en"><![CDATA[Women]]></kwd>
<kwd lng="pt"><![CDATA[Neoplasias da mama]]></kwd>
<kwd lng="pt"><![CDATA[Ressonância magnética]]></kwd>
<kwd lng="pt"><![CDATA[Genes BRCA1]]></kwd>
<kwd lng="pt"><![CDATA[Genes BRCA2]]></kwd>
<kwd lng="pt"><![CDATA[Mutação]]></kwd>
<kwd lng="pt"><![CDATA[Mulheres]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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