Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry (Q37537200)

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scientific article published on 09 August 2012

Language	Label	Description	Also known as
English	Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry	scientific article published on 09 August 2012

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scholarly article

1 reference

Europe PubMed Central

20 August 2017

Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry (English)

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Europe PubMed Central

20 August 2017

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colorectal cancer

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based on heuristic

inferred from title

colorectal carcinoma

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based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

1

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Europe PubMed Central

20 August 2017

Timothy A. Dobbins

object named as

Timothy Dobbins

2

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Noralane Lindor

3

object named as

Noralane M Lindor

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Europe PubMed Central

20 August 2017

author name string

Robert W Rapkins

4

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Europe PubMed Central

20 August 2017

Megan P Hitchins

5

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Europe PubMed Central

20 August 2017

language of work or name

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publication date

9 August 2012

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Europe PubMed Central

20 August 2017

Genetics in Medicine

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Europe PubMed Central

20 August 2017

15

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Europe PubMed Central

20 August 2017

25-35

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Europe PubMed Central

20 August 2017

1

1 reference

Europe PubMed Central

20 August 2017

https://scigraph.springernature.com/pub.10.1038/gim.2012.91

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

23 August 2017

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

23 August 2017

Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

23 August 2017

Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

23 August 2017

Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

23 August 2017

MethyLight: a high-throughput assay to measure DNA methylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

23 August 2017

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

14 September 2017

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

1 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

1 September 2018

Methylation of the 3p22 region encompassing MLH1 is representative of the CpG island methylator phenotype in colorectal cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

1 September 2018

Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

1 September 2018

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

1 September 2018

Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

1 September 2018

Germline epimutation of MLH1 in individuals with multiple cancers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

1 September 2018

Extensive but hemiallelic methylation of the hMLH1 promoter region in early-onset sporadic colon cancers with microsatellite instability.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

1 September 2018

Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

1 September 2018

A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

1 September 2018

Dominantly Inherited Constitutional Epigenetic Silencing of MLH1 in a Cancer-Affected Family Is Linked to a Single Nucleotide Variant within the 5′UTR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

2 October 2018

Erasure of MLH1 methylation in spermatozoa—implications for epigenetic inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

2 October 2018

Inheritance of a Cancer-AssociatedMLH1Germ-Line Epimutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

2 October 2018

MLH1 Germline Epimutations as a Factor in Hereditary Nonpolyposis Colorectal Cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908650

2 October 2018

Large genomic rearrangements and germline epimutations in Lynch syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.91

21 January 2018

Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families

1 reference

https://pubmed.ncbi.nlm.nih.gov/22878509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1

1 reference

https://pubmed.ncbi.nlm.nih.gov/22878509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC

1 reference

https://pubmed.ncbi.nlm.nih.gov/22878509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?

1 reference

https://pubmed.ncbi.nlm.nih.gov/22878509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/GIM.2012.91

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

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