(Q37407204)

20 August 2017

Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome (English)

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20 August 2017

Albert de la Chapelle

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object named as

Albert de la Chapelle

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author name string

Israel Zighelboim

1

1 reference

20 August 2017

Matthew A Powell

2

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20 August 2017

Sheri A Babb

3

1 reference

20 August 2017

Alison J Whelan

4

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20 August 2017

Amy P Schmidt

5

1 reference

20 August 2017

Mark Clendenning

6

1 reference

20 August 2017

Leigha Senter

7

1 reference

20 August 2017

Stephen N Thibodeau

8

1 reference

20 August 2017

Paul J Goodfellow

10

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20 August 2017

12 August 2009

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20 August 2017

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20 August 2017

8

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20 August 2017

4

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20 August 2017

501-504

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https://scigraph.springernature.com/pub.10.1007/s10689-009-9276-2

20 August 2017

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cites work

A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771133

The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch syndrome: from bench to bedside

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771133

Excess of early onset multiple myeloma in endometrial cancer probands and their relatives suggests common susceptibility

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771133

Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771133

Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771133

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771133

A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771133

COBRA: a sensitive and quantitative DNA methylation assay

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771133

Genomic organization of the human PMS2 gene family.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771133

Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771133

Long-range PCR facilitates the identification of PMS2-specific mutations.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771133

Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771133

New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771133

Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors

2 September 2018

1 reference

12 December 2020

A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: Meeting Highlights and Bethesda Guidelines

1 reference

12 December 2020

Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients

1 reference

12 December 2020

Microsatellite Instability and Epigenetic Inactivation ofMLH1and Outcome of Patients With Endometrial Carcinomas of the Endometrioid Type

1 reference

12 December 2020

Evaluation of the family history collection process and the accuracy of cancer reporting among a series of women with endometrial cancer

1 reference

12 December 2020

10.1007/S10689-009-9276-2

Identifiers

DOI

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20 August 2017

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20 August 2017

PubMed publication ID

19672700

1 reference