Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome
Joint Authors
Armendáriz-Borunda, Juan
Moreno-Ortiz, Jose Miguel
Ayala-Madrigal, María de la Luz
Corona-Rivera, Jorge Román
Centeno-Flores, Manuel
Maciel-Gutiérrez, Víctor
Franco-Topete, Ramón Antonio
Hotchkiss, Erin
Pérez-Carbonell, Lucia
Rhees, Jennifer
Boland, Clement Richard
Gutiérrez-Angulo, Melva
Source
Gastroenterology Research and Practice
Issue
Vol. 2016, Issue 2016 (31 Dec. 2015), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-05-10
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Background.
Lynch Syndrome (LS) is characterized by germline mutations in the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2.
This syndrome is inherited in an autosomal dominant pattern and is characterized by early onset colorectal cancer (CRC) and extracolonic tumors.
The aim of this study was to identify mutations in MMR genes in three Mexican patients with LS.
Methods.
Immunohistochemical analysis was performed as a prescreening method to identify absent protein expression.
PCR, Denaturing High Performance Liquid Chromatography (dHPLC), and Sanger sequencing complemented the analysis.
Results.
Two samples showed the absence of nuclear staining for MLH1 and one sample showed loss of nuclear staining for MSH2.
The mutations found in MLH1 gene were c.2103+1G>C in intron 18 and compound heterozygous mutants c.1852_1854delAAG (p.K618del) and c.1852_1853delinsGC (p.K618A) in exon 16.
In the MSH2 gene, we identified mutation c.638dupT (p.L213fs) in exon 3.
Conclusions.
This is the first report of mutations in MMR genes in Mexican patients with LS and these appear to be novel.
American Psychological Association (APA)
Moreno-Ortiz, Jose Miguel& Ayala-Madrigal, María de la Luz& Corona-Rivera, Jorge Román& Centeno-Flores, Manuel& Maciel-Gutiérrez, Víctor& Franco-Topete, Ramón Antonio…[et al.]. 2016. Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome. Gastroenterology Research and Practice،Vol. 2016, no. 2016, pp.1-6.
https://search.emarefa.net/detail/BIM-1104710
Modern Language Association (MLA)
Moreno-Ortiz, Jose Miguel…[et al.]. Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome. Gastroenterology Research and Practice Vol. 2016, no. 2016 (2015), pp.1-6.
https://search.emarefa.net/detail/BIM-1104710
American Medical Association (AMA)
Moreno-Ortiz, Jose Miguel& Ayala-Madrigal, María de la Luz& Corona-Rivera, Jorge Román& Centeno-Flores, Manuel& Maciel-Gutiérrez, Víctor& Franco-Topete, Ramón Antonio…[et al.]. Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome. Gastroenterology Research and Practice. 2016. Vol. 2016, no. 2016, pp.1-6.
https://search.emarefa.net/detail/BIM-1104710
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1104710