MLH1, EPIGENETICALLY SILENCED AND Lynch syndrome II

Clinical significance:Pathogenic (Last evaluated: May 1, 2004)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000018635.27

Allele description [Variation Report for MLH1, EPIGENETICALLY SILENCED]

MLH1, EPIGENETICALLY SILENCED

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
Variation
Cytogenetic location:
3p21.3
Preferred name:
MLH1, EPIGENETICALLY SILENCED
Other names:
MLH1, EPIGENETICALLY SILENCED
Links:
OMIM: 120436.0025

Condition(s)

Name:
Lynch syndrome II (HNPCC2)
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; MLH1-Related Hereditary Non-Polyposis Colon Cancer; MLH1-Related Lynch Syndrome
Identifiers:
MedGen: C1333991; Orphanet: 144; OMIM: 609310

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038918OMIMno assertion criteria providedPathogenic
(May 1, 2004)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Germline epimutation of MLH1 in individuals with multiple cancers.

Suter CM, Martin DI, Ward RL.

Nat Genet. 2004 May;36(5):497-501. Epub 2004 Apr 4.

PubMed [citation]
PMID:
15064764

Details of each submission

From OMIM, SCV000038918.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Some epigenetic changes can be transmitted unchanged through the germline (termed 'epigenetic inheritance'). Evidence that this mechanism occurs in humans was provided by Suter et al. (2004) by the identification of individuals in whom 1 allele of the MLH1 gene was epigenetically silenced throughout the soma (implying a germline event). These individuals were affected by hereditary nonpolyposis colorectal cancer but did not have identifiable mutations in MLH1, even though it was silenced, which demonstrated that an epimutation can phenocopy a genetic disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 8, 2018