Back to Search Start Over

Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer

Authors :
Cristina Alenda
Rodrigo Jover
José Luis Soto
Zaida García-Casado
Víctor Manuel Barberá
Lucía Pérez-Carbonell
Antoni Castells
Cecilia Egoavil
Miriam Juárez
Eva Hernández-Illán
Maria Rodriguez-Soler
Alejandro Brea-Fernández
Xavier Llor
María Isabel Castillejo
Luis Bujanda
Carla Guarinos
Artemio Payá
Angel Carracedo
Montserrat Andreu
María José Juan
Adela Castillejo
Eduardo Martínez-de-Dueñas
Clara Ruiz-Ponte
Ana Beatriz Sánchez-Heras
Juan Clofent
Universidad de Alicante. Departamento de Biotecnología
Universidad de Alicante. Departamento de Fisiología, Genética y Microbiología
Biotecnología
Transducción de Señales en Bacterias
Source :
JOURNAL OF MEDICAL GENETICS, r-FISABIO: Repositorio Institucional de Producción Científica, Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO), J MED GENET, r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante, instname, r-FISABIO. Repositorio Institucional de Producción Científica
Publication Year :
2015
Publisher :
BMJ Publishing Group, 2015.

Abstract

Background The prevalence of MLH1 constitutional epimutations in the general population is unknown. We sought to analyse the prevalence of MLH1 constitutional epimutations in unselected and selected series of patients with colorectal cancer (CRC). Methods Patients with diagnoses of CRC (n=2123) were included in the unselected group. For comparison, a group of 847 selected patients with CRC who fulfilled the revised Bethesda guidelines (rBG) were also included. Somatic and constitutional MLH1 methylation was assayed via methylation-specific multiplex ligation-dependent probe amplification of cases lacking MLH1 expression. Germline alterations in mismatch-repair (MMR) genes were assessed via Sanger sequencing and methylation-specific multiplex ligation-dependent probe amplification. Results Loss of MLH1 expression occurred in 5.5% of the unselected series and 12.5% of the selected series (p

Details

Language :
English
ISSN :
00222593
Database :
OpenAIRE
Journal :
JOURNAL OF MEDICAL GENETICS, r-FISABIO: Repositorio Institucional de Producción Científica, Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO), J MED GENET, r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante, instname, r-FISABIO. Repositorio Institucional de Producción Científica
Accession number :
edsair.doi.dedup.....94203adece934063b72d8b9af0d299e2