Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases (Q37385768)

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scientific article published on 18 August 2009

Language	Label	Description	Also known as
English	Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases	scientific article published on 18 August 2009

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases (English)

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

colorectal cancer

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

colorectal carcinoma

1 reference

based on heuristic

inferred from title

DNA mismatch repair

1 reference

based on heuristic

inferred from title

4

object named as

Judy E Garber

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

author name string

James Mueller

1

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Isabella Gazzoli

2

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Prathap Bandipalliam

3

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Sapna Syngal

5

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Richard D Kolodner

6

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

language of work or name

0 references

publication date

18 August 2009

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Cancer Research

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

69

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

17

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

7053-7061

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

Role of mismatch repair and MGMT in response to anticancer therapies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

Screening for the Lynch syndrome (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=2761236

6 September 2017

Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients 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=2761236

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 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=2761236

6 September 2017

Genetic predisposition to colorectal cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

Structure of the MutL C-terminal domain: a model of intact MutL and its roles in mismatch repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

Germ-line msh6 mutations in colorectal cancer families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

Familial endometrial cancer in female carriers of MSH6 germline mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

Germline mutation of MSH6 as the cause of 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=2761236

6 September 2017

Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

Genomic organization of the human PMS2 gene family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

6 September 2017

DNA mismatch repair-dependent response to fluoropyrimidine-generated damage.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

14 September 2017

Hereditary Nonpolyposis Colorectal Cancer: the Syndrome, the Genes, and Historical Perspectives

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

14 September 2017

Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

28 September 2017

Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

26 June 2018

Prediction of Lynch syndrome in consecutive patients with colorectal cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

2 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=2761236

2 September 2018

MSH2 118T>C and MSH6 159C>T promoter polymorphisms and the risk of colorectal cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

2 September 2018

MLH1 -93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

2 September 2018

Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

2 September 2018

The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

2 September 2018

Clinical presentation correlates with the type of mismatch repair gene involved in hereditary nonpolyposis colon cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

2 September 2018

Different molecular mechanisms underlie genomic deletions in the MLH1 Gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

2 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=2761236

2 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

2 September 2018

Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

2 September 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=2761236

2 October 2018

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

3 December 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2761236

3 December 2018

Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families

1 reference

https://pubmed.ncbi.nlm.nih.gov/19690142

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of mismatch repair genes in hereditary non–polyposis colorectal cancer patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/19690142

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19690142

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interpretation of Genetic Test Results for Hereditary Nonpolyposis Colorectal Cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/19690142

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long Term Follow-up of HNPCC Gene Mutation Carriers: Compliance with Screening and Satisfaction with Counseling and Screening Procedures

1 reference

https://pubmed.ncbi.nlm.nih.gov/19690142

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distinct patterns of germ-line deletions inMLH1 andMSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)

1 reference

https://pubmed.ncbi.nlm.nih.gov/19690142

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical performance of original and revised Bethesda guidelines for the identification of MSH2/MLH1 gene carriers in patients with newly diagnosed colorectal cancer: proposal of a new and simpler set of recommendations

1 reference

https://pubmed.ncbi.nlm.nih.gov/19690142

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19690142

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements

1 reference

https://pubmed.ncbi.nlm.nih.gov/19690142

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19690142

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/19690142

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1158/0008-5472.CAN-09-0358

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

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