Discover Community Create You

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

Article

Constitutional MLH1 methylation presenting with colonic polyposis syndrome and not Lynch syndrome.

Familial cancer - 1 Apr 2016

Kidambi Trilokesh D, Blanco Amie, Van Ziffle Jessica, Terdiman Jonathan P

Abstract excerpt

At least one-third of patients meeting clinical criteria for Lynch syndrome will have no germline mutation and constitutional epimutations leading to promoter methylation of MLH1 have been identified in a subset of these patients. We report the first case of constitutional MLH1 promoter methylation associated with a colonic polyposis syndrome in a 39 year-old man with a family history of colorectal cancer (CRC)...

Read the complete abstract on PubMed

Topics

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

Share to Adenocarcinoma
Share to Colonic Polyps
Share to Colorectal Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Share to DNA Methylation

Share to Microsatellite Instability

Share to Multiplex Polymerase Chain Reaction

Share to MutL Protein Homolog 1

Source

Identifiers

PMID: 26781822
DOI: 10.1007/s10689-016-9868-6

Genes

MLH1
PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Constitutional MLH1 methylation presenting with colonic polyposis syndrome and not Lynch syndrome.PMID 26781822Read ↗

Clinical and genetic characterization of constitutional MLH1 promoter hypermethylation: Implications for Lynch syndrome diagnosis.Semantic proximity Read ↗

Blurring the Lines: Co-Occurrence of MSH6 Variant and MLH1 Constitutional Epimutation in a Young Colorectal Cancer Patient.Semantic proximity Read ↗

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

Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC).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 ↗

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 ↗

Intensity-dependent constitutional MLH1 promoter methylation leads to early onset of colorectal cancer by affecting both alleles.Semantic 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 ↗

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