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

doi:10.1136/jmedgenet-2015-103076

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

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

Journal of medical genetics - 1 Jul 2015

Castillejo Adela, Hernández-Illán Eva, Rodriguez-Soler María, Pérez-Carbonell Lucía, Egoavil Cecilia, Barberá Victor M, Castillejo María-Isabel, Guarinos Carla, Martínez-de-Dueñas Eduardo, Juan María-Jose, Sánchez-Heras Ana-Beatriz, García-Casado Zaida, Ruiz-Ponte Clara, Brea-Fernández Alejandro, Juárez Miriam, Bujanda Luis, Clofent Juan, Llor Xavier, Andreu Montserrat, Castells Antoni, Carracedo Angel, Alenda Cristina, Payá Artemio, Jover Rodrigo, Soto José-Luis

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptor Proteins, Signal Transducing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Share to DNA Methylation

Share to DNA Mismatch Repair

Share to Epigenesis, Genetic

Share to MutL Protein Homolog 1

Share to Nuclear Proteins

Share to Statistics, Nonparametric

Source

Open in PubMed

Identifiers

PMID: 25908759
DOI: 10.1136/jmedgenet-2015-103076

Genes

MLH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer.PMID 25908759Read ↗

MLH1 methylation screening is effective in identifying epimutation carriers.Semantic proximity Read ↗

Finding the needle in a haystack: identification of cases of Lynch syndrome with MLH1 epimutation.Semantic proximity Read ↗

Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation.Semantic proximity Read ↗

Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort.Semantic proximity Read ↗

Constitutional (germline) <i>MLH1</i> epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancerSemantic proximity Read ↗

The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.Semantic proximity Read ↗

Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry.Semantic proximity Read ↗

Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair–Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and YoungerSemantic proximity Read ↗

Large genomic rearrangements and germline epimutations in Lynch syndromeSemantic proximity Read ↗

Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation.Semantic proximity Read ↗

MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch SyndromeSemantic proximity Read ↗

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.