SciELO - Scientific Electronic Library Online

 
vol.34 issue4The most common rheumatic diseases in patients with autoimmune liver disease in the Hospital Arzobispo Loayza from 2008 -2013, Lima, Peru author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

  • Have no cited articlesCited by SciELO

Related links

  • Have no similar articlesSimilars in SciELO

Share


Revista de Gastroenterología del Perú

Print version ISSN 1022-5129

Abstract

NIQUE CARBAJAL, Cesar et al. Molecular characterization of hereditary colorectal cancer in Peru. Rev. gastroenterol. Perú [online]. 2014, vol.34, n.4, pp.299-303. ISSN 1022-5129.

Objective. To investigate the molecular deficiency in MMR genes associated to Lynch syndrome. Material and 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. The present study contributes to the genetic and clinical characterization of the Lynch syndrome in the Peruvian population.

Keywords : Colorectal neoplasms; Lynch syndrome; Genetic; Peru.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )

 

Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License