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Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer
- 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
- Subjects :
- Oncology
medicine.medical_specialty
congenital, hereditary, and neonatal diseases and abnormalities
Colorectal cancer
Molecular Sequence Data
Population
Biología Celular
MLH1
DNA Mismatch Repair
Statistics, Nonparametric
Germline
Epigenesis, Genetic
symbols.namesake
Internal medicine
Prevalence
Genetics
medicine
Humans
Genetic Testing
Promoter Regions, Genetic
education
colon, Clinical genetics, Epigenetics [Cancer]
neoplasms
Genetics (clinical)
MLH1 constitutional epimutations
Adaptor Proteins, Signal Transducing
Sanger sequencing
education.field_of_study
Base Sequence
business.industry
Nuclear Proteins
nutritional and metabolic diseases
Sequence Analysis, DNA
DNA Methylation
medicine.disease
Colorectal Neoplasms, Hereditary Nonpolyposis
Genética
Lynch syndrome
digestive system diseases
Mutation
symbols
Unselected population
Medical genetics
MutL Protein Homolog 1
business
Microsatellite Repeats
Subjects
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