Universidad de Salamanca
Estudio de mutaciones en los genes reparadores en pacientes con síndrome de Lynch
Abstract
[EN] This paper has proposed: - Perform the search for mutations in MLH1 and MSH2 genes in patients and families with suspected Lynch syndrome referred to the Genetic Counselling Unit, University Hospital of Salamanca between 2003 and 2010 in order to identify families carrying alteration in any of the three genes. - For patients and families where no mutation was detected, we propose the analysis of large genomic rearrangements that allow us to identify losses or amplifications of genes MLH1, MSH2 and MSH6. - To analyze the presence of the polymorphism c.-93A> G in probands with suspected Lynch syndrome, individuals with sporadic colon cancer and healthy individuals. - Perform the search for mutations in probands whose immunohistochemical analysis showed the absence of MLH1 protein in tumor tissue. - Identify potential bioinfomáticas tools microRNAs by binding to MLH1, MSH2 and MSH6.
Author and committee
dc:creator, dc:contributor.*- Author
-
- Macías Álvarez, Laura
Subjects
dc:subject × 8Identifiers
dc:identifier.*- Identifier
- hdl:10366/110158
- OAI identifier oai:identifier
- oai:gredos.usal.es:10366/110158