Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases (Q34756357)

4 August 2017

Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases (English)

1 reference

4 August 2017

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17

Loic Le Marchand

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Mark Jenkins

Mark A Jenkins

10

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John Potter

John D Potter

9

0 references

John Hopper

11

John L Hopper

1 reference

4 August 2017

6

Steven Gallinger

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4 August 2017

8

Polly A Newcomb

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4 August 2017

3

Noralane M Lindor

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4 August 2017

Daniel J Weisenberger

13

Daniel J Weisenberger

1 reference

4 August 2017

Kandelaria Rumilla

1

1 reference

4 August 2017

Karen V Schowalter

2

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4 August 2017

Brittany C Thomas

4

1 reference

4 August 2017

Kara A Mensink

5

1 reference

4 August 2017

Spring Holter

7

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4 August 2017

Tiffany I Long

12

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4 August 2017

Robert W Haile

14

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4 August 2017

Graham Casey

15

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4 August 2017

Peter W Laird

16

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4 August 2017

Stephen N Thibodeau

18

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4 August 2017

23 December 2010

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The Journal of Molecular Diagnostics

4 August 2017

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4 August 2017

13

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4 August 2017

1

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4 August 2017

93-99

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Risks of Lynch syndrome cancers for MSH6 mutation carriers

4 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Genetic diagnosis strategy of hereditary non-polyposis colorectal cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

CpG island methylation status in the EpCAM promoter region and gene expression

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Analysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Genetic susceptibility to non-polyposis colorectal cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Familial endometrial cancer in female carriers of MSH6 germline mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Cancer risk in mutation carriers of DNA-mismatch-repair genes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Microsatellite instability in cancer of the proximal colon

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Clues to the pathogenesis of familial colorectal cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Mutations of two PMS homologues in hereditary nonpolyposis colon cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

The tumor spectrum in HNPCC.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Alpha-thalassaemia caused by a poly(A) site mutation reveals that transcriptional termination is linked to 3' end processing in the human alpha 2 globin gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Inheritance of a Cancer-AssociatedMLH1Germ-Line Epimutation

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

MLH1 Germline Epimutations as a Factor in Hereditary Nonpolyposis Colorectal Cancer

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Germline epimutation of MLH1 in individuals with multiple cancers.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC)--results of an international collaborative study

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Molecular characterization of the spectrum of genomic deletions in the mismatch repair genesMSH2,MLH1,MSH6, andPMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC)

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069927

Hereditary colorectal cancer

26 October 2018

1 reference

12 December 2020

Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history

1 reference

12 December 2020

Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes

1 reference

12 December 2020

Expression of the hMLH1 and hMSH2 proteins in normal tissues: relationship to cancer predisposition in hereditary non-polyposis colon cancer

1 reference

12 December 2020

Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregation

1 reference

12 December 2020

MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer

1 reference

12 December 2020

Evidence for heritable predisposition to epigenetic silencing of MLH1

1 reference

12 December 2020

A new variant database for mismatch repair genes associated with Lynch syndrome

1 reference

12 December 2020

Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors

1 reference

12 December 2020

10.1016/J.JMOLDX.2010.11.011

Identifiers

DOI

1 reference

4 August 2017

1 reference

4 August 2017

1 reference