Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer (Q34102586)

31 July 2017

title

Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer (English)

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31 July 2017

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John L Hopper

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Daniela Seminara

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31 July 2017

Steven Gallinger

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31 July 2017

Christine E Collins

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Noralane M Lindor

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Graham Casey

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Nickolas Papadopoulos

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Stephen N Thibodeau

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31 July 2017

John Moskow

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Scott Steelman

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Carolyn H Buzin

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Steve S Sommer

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Malinda Butz

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31 July 2017

Melyssa Aronson

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Melissa A Barker

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Joanne P Young

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Jeremy R Jass

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Anh Diep

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Bharati Bapat

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Michael Salem

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Robert Haile

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31 July 2017

Colon Cancer Family Registry

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31 July 2017

language of work or name

English

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publication date

1 February 2005

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The Journal of the American Medical Association

31 July 2017

published in

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volume

293

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31 July 2017

page(s)

799-809

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describes a project that uses

31 July 2017

ImageQuant

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2933041/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933041

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933041

Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933041

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933041

2002 William Allan Award Address. Inherited human diseases: victories, challenges, disappointments

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933041

Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933041

Phenotypic analysis of hMSH2 mutations in mouse cells carrying human chromosomes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933041

Conversion of diploidy to haploidy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933041

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933041

Genetic instability occurs in the majority of young patients with colorectal cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933041

Monoallelic mutation analysis (MAMA) for identifying germline mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933041

A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933041

Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933041

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933041

The role of hPMS1 and hPMS2 in predisposing to colorectal cancer

28 October 2018

1 reference

12 December 2020

Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors

1 reference

12 December 2020

Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements

1 reference

12 December 2020

Hereditary colorectal cancer

1 reference

12 December 2020

Clinical Significance of Early-Onset “Sporadic” Colorectal Cancer With Microsatellite Instability

1 reference

12 December 2020

The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)

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12 December 2020

Identifiers

DOI

10.1001/JAMA.293.7.799

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31 July 2017

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31 July 2017

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