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 (germline) <i>MLH1</i> epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer

29 Jun 2009

Abstract excerpt

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome characterised by a predisposition to early onset colorectal, endometrial and other cancers. The tumours typically exhibit microsatellite instability due to defective mismatch repair. HNPCC is classically caused by heterozygous loss-of-function mutations within the mismatch repair genes MLH1, MSH2, MSH6 and PMS2, but no pathogenic...

Read the complete abstract on PubMed

Topics

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

Share to Cancer Genomics and Diagnostics
Share to DNA Repair Mechanisms
Share to Genetic factors in colorectal cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 19564652
DOI: 10.1136/jmg.2009.068122

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

Constitutional (germline) <i>MLH1</i> epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancerPMID 19564652Read ↗

MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer.Semantic proximity Read ↗

Inheritance of epigenetic aberrations (constitutional epimutations) in cancer susceptibility.Semantic 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 new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort.Semantic proximity Read ↗

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

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

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

Mosaic Epigenetic Inheritance as a Cause of Early-Onset Colorectal Cancer.Semantic proximity Read ↗

De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one.Semantic proximity Read ↗

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

Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations.Semantic proximity Read ↗

Primary constitutional MLH1 epimutations: a focal epigenetic eventSemantic proximity Read ↗

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