title: [Molecular characterization of hereditary colorectal cancer in Peru].
abstract: OBJECTIVE
  To investigate the molecular deficiency in MMR genes associated to Lynch syndrome.
  
  
  METHODS
  Immunohistochemical and microsatellite instability (MSI) analysis were performed in 5 families with suspected Lynch syndrome according to the clinical criteria, Amsterdam and/or Bethesda that had been treated at the Hospital Nacional Almanzor Aguinaga Asenjo (Lambayeque-Peru) during 2007-2010.
  
  
  RESULTS
  The absence of expression of MLH1/PMS2 and high MSI (MSI-H) were observed in a male patient aged 60 with adenocarcinoma grade I. In addition, the point mutational analysis was performed in BRAF (V600E) to rule that it is a sporadic case of colorectal cancer. The absence of mutation in BRAF together with the molecular analysis suggests the suspicion as a Lynch syndrome.
  
  
  CONCLUSIONS
  It is the first molecular study reported in the Peruvian population and demonstrates the importance of molecular analysis in families with suspected hereditary colorectal cancer in order to provide possibilities of surveillance and monitoring that have been shown to reduce morbidity and mortality of colorectal cancer in the Peruvian population.
authors.affiliation: Departamento de Ciencias de la Salud, Universidad Católica Santo Toribio de Mogrovejo. Lambayeque, Perú.
authors.forename: Cesar
authors.initials: C
authors.lastname: Ñique Carbajal
authors.affiliation: Universidad Católica Santo Toribio de Mogrovejo. Lambayeque, Perú.
authors.forename: Fernando
authors.initials: F
authors.lastname: Sánchez Renteria
authors.affiliation: Department of Oncology-Pathology, Institute of Clinical Sciences, Lund University. Lund, Sweden.
authors.forename: Barbara
authors.initials: B
authors.lastname: Lettiero
authors.affiliation: Department of Experimental Medical Science, Unit of Muscle Biology, Lund Transgenic Core Facility/Reproductive Immunology, Lund University. Lund, Sweden.
authors.forename: Patrik
authors.initials: P
authors.lastname: Wernhoff
authors.affiliation: Department of Biomedicine, University of Bergen, 5009 Bergen, Norway.
authors.forename: Mev
authors.initials: M
authors.lastname: Domínguez-Valentin
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000378:metabolism; D000251:Adenosine Triphosphatases / Q000378:metabolism; D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000235:genetics / Q000378:metabolism*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D045643:DNA Repair Enzymes / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000378:metabolism; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D053842:Microsatellite Instability; D008875:Middle Aged; D000070976:Mismatch Repair Endonuclease PMS2; D000070957:MutL Protein Homolog 1; D009687:Nuclear Proteins / Q000378:metabolism; D010568:Peru; D017354:Point Mutation; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D014408:Biomarkers, Tumor; D004268:DNA-Binding Proteins; D005819:Genetic Markers; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; D000251:Adenosine Triphosphatases; C094934:PMS2 protein, human; D000070976:Mismatch Repair Endonuclease PMS2; D000070957:MutL Protein Homolog 1; D045643:DNA Repair Enzymes