<?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>2565-005X</journal-id>
<journal-title><![CDATA[Gaceta mexicana de oncología]]></journal-title>
<abbrev-journal-title><![CDATA[Gac. mex. oncol.]]></abbrev-journal-title>
<issn>2565-005X</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Mexicana de Oncología A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2565-005X2019000400258</article-id>
<article-id pub-id-type="doi">10.24875/j.gamo.m19000207</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Investigating the prevalence of point mutations in the human mutL homolog 1 gene in colorectal cancer patients in the Northwest of Iran]]></article-title>
<article-title xml:lang="es"><![CDATA[Investigando la prevalencia de mutaciones puntuales en el gen humano mutL homólogo1 en pacientes con cáncer colorrectal en el Noroeste de Irán]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gholami]]></surname>
<given-names><![CDATA[Marjan]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Khaniani]]></surname>
<given-names><![CDATA[Mahmoud Shekari]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Derakhshan]]></surname>
<given-names><![CDATA[Sima Mansoori]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Esfahani]]></surname>
<given-names><![CDATA[Ali]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Islamic Azad University Ahar Branch Faculty of Basic Sciences Department of Biology]]></institution>
<addr-line><![CDATA[Ahar ]]></addr-line>
<country>Iran</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Tabriz University of Medical Sciences School of Medicine Department of Medical Genetics]]></institution>
<addr-line><![CDATA[Tabriz ]]></addr-line>
<country>Iran</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Tabriz university of Medical Sciences School of Medicine Hematology and Oncology research center]]></institution>
<addr-line><![CDATA[Tabriz ]]></addr-line>
<country>Iran</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2019</year>
</pub-date>
<volume>18</volume>
<numero>4</numero>
<fpage>258</fpage>
<lpage>264</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S2565-005X2019000400258&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S2565-005X2019000400258&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S2565-005X2019000400258&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background/aims: Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common form of colorectal cancer (CRC) syndrome, in which the mutations in mismatch repair genes have been implicated in the disease etiopathogenesis. The aim of this study was to investigate the prevalence of human mutL homolog 1 (hMLH1) gene point mutations in patients with HNPCC in Northwest of Iran  Methodology: In this study, 30 patients with HNPCC were selected who fulfilled the Amsterdam II criteria. Moreover, 30 subjects were selected as the control group. Total RNA was extracted from peripheral blood sample, and complementary DNA (cDNA) was synthesized using specific primers. Screening of germline mutations within the hMLH1 gene was performed by direct cDNA sequencing. Functional evaluation was conducted through real-time polymerase chain reaction mRNA expression using the TaqMan Gene Expression Assay.  Results: In this study, c.655A &gt;G polymorphism was found in 13.3% of patients and 10% of the control group, while c.1959G &gt; T polymorphism was found in only one of the patients. Two novel variants, including c.973C &gt; A and c.1086C &gt; A, were found in 13.3% and 20% of patients, respectively, that were identified for the 1st time in this study. Moreover, the mRNA expression of hMLH1 gene in patients carrying the c.973C &gt; A and c.1086C &gt; A mutations showed no statistically significant difference in comparison to patients with no mutation and healthy controls.  Conclusions: This study establishes that the frequency and type of mutations do not follow a similar pattern in other populations due to genetic and geographical differences.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Antecedentes/objetivos: El cáncer colorrectal hereditario sin poliposis (HNPCC) es la forma más común del síndrome de cáncer colorrectal (CCR) en el que las mutaciones en los genes reparadores de desajustes (MMR) se han implicado en la etiopatogenia de la enfermedad. El objetivo de este estudio fue investigar la prevalencia de mutaciones puntuales del gen homólogo humano MUTL1 (hMLH1) en pacientes con HNPCC en el noroeste de Irán.  Metodología: En este estudio, se seleccionaron 30 pacientes con HNPCC que cumplían los criterios de Amsterdam II. Además, se seleccionaron 30 sujetos como grupo control. Se extrajo el RNA total de la muestra de sangre periférica y se sintetizó el cDNA usando iniciadores específicos. La detección de mutaciones en la línea germinal dentro del gen hMLH1 se realizó mediante secuenciación directa del cDNA. La evaluación funcional se realizó mediante expresión de mRNA de PCR en tiempo real utilizando el ensayo de expresión génica TaqMan.  Resultados: En este estudio, se encontró polimorfismo c.655A &gt; G en el 13.3% de los pacientes y el 10% del grupo control, mientras que se encontró polimorfismo c.1959 G &gt; T en solo uno de los pacientes. Dos nuevas variantes, incluidas c.9730 &gt; A y c. 1086C &gt; A, se encontraron en el 13.3 y el 20% de pacientes, respectivamente, que fueron identificados por primera vez en este estudio. Además, la expresión de mRNA del gen hMLH1 en pacientes portadores de las mutaciones C.973C &gt; A y c.1086C &gt; A no mostró diferencias estadísticamente significativas en comparación con pacientes sin mutación y controles sanos.  Conclusiones: Este estudio establece que la frecuencia y el tipo de mutaciones no siguen un patrón similar en otras poblaciones debido a diferencias genéticas y geográficas.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Hereditary nonpolyposis colorectal cancer]]></kwd>
<kwd lng="en"><![CDATA[Human mutL homolog 1]]></kwd>
<kwd lng="en"><![CDATA[Human mutL homolog 2]]></kwd>
<kwd lng="en"><![CDATA[Mismatch repair genes]]></kwd>
<kwd lng="en"><![CDATA[Point mutation]]></kwd>
<kwd lng="es"><![CDATA[Cáncer colorrectal hereditario sin poliposis]]></kwd>
<kwd lng="es"><![CDATA[hMLH1]]></kwd>
<kwd lng="es"><![CDATA[hMLH2]]></kwd>
<kwd lng="es"><![CDATA[Genes reparadores de desajustes (MMR)]]></kwd>
<kwd lng="es"><![CDATA[Mutación puntual]]></kwd>
</kwd-group>
</article-meta>
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