Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant (Q37360286)

19 August 2017

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant (English)

1 reference

19 August 2017

7

Elisabeth G E de Vries

1 reference

19 August 2017

3

Rolf H Sijmons

1 reference

19 August 2017

Maran J W Berends

1

1 reference

19 August 2017

Ying Wu

2

1 reference

19 August 2017

Rob G J Mensink

4

1 reference

19 August 2017

Tineke van der Sluis

5

1 reference

19 August 2017

Jannet M Hordijk-Hos

6

1 reference

19 August 2017

Harry Hollema

8

1 reference

19 August 2017

Arend Karrenbeld

9

1 reference

19 August 2017

Charles H C M Buys

10

1 reference

19 August 2017

Ate G J van der Zee

11

1 reference

19 August 2017

Robert M W Hofstra

12

1 reference

19 August 2017

Jan H Kleibeuker

13

1 reference

19 August 2017

language of work or name

English

0 references

publication date

1 January 2002

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

70

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19 August 2017

26-37

1 reference

19 August 2017

1

1 reference

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

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

The DNA mismatch repair genes Msh3 and Msh6 cooperate in intestinal tumor suppression

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic 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=384896

Germ-line msh6 mutations in colorectal cancer families

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline 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=384896

Familial endometrial cancer in female carriers of MSH6 germline 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=384896

Mononucleotide microsatellite instability and germline MSH6 mutation analysis in early onset 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=384896

Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis 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=384896

Germline mutations in a polycytosine repeat of the hMSH6 gene in Korean hereditary nonpolyposis 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=384896

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=384896

Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

Germline mutation of MSH6 as the cause of hereditary nonpolyposis 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=384896

hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

Redundancy of Saccharomyces cerevisiae MSH3 and MSH6 in MSH2-dependent mismatch repair

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

Mutator phenotypes in human colorectal carcinoma cell lines

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

Mutations of GTBP in genetically unstable cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

hMLH1, hMSH2 and hMSH6 mutations in hereditary non-polyposis colorectal cancer families from southern Sweden

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

Clues to the pathogenesis of familial colorectal cancer

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

Population-based molecular detection of hereditary nonpolyposis colorectal cancer

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

Mutations in hMSH6 alone are not sufficient to cause the microsatellite instability in colorectal cancer cell lines.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

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=384896

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

The risk of endometrial cancer in hereditary nonpolyposis colorectal cancer.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

Clinical Findings with Implications for Genetic Testing in Families with Clustering of Colorectal Cancer

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384896

MSH2 andMLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis

3 December 2018

1 reference

12 December 2020

"Second hit" in sebaceous tumors from Muir-Torre patients with germline mutations in MSH2: allele loss is not the preferred mode of inactivation

1 reference

12 December 2020

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

1 reference

12 December 2020

Surveillance in hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome

1 reference

12 December 2020

Expression of the human mismatch repair gene hMSH2 in normal and neoplastic tissues

1 reference

12 December 2020

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

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

Mutational analysis of MLH1 and MSH2 in 25 prospectively-acquired RER+ endometrial cancers

1 reference

12 December 2020

Proof of "disease causing" mutation

1 reference

12 December 2020

Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium

1 reference

12 December 2020

Suspected hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

Microsatellite instability and expression of MLH1 and MSH2 in normal and malignant endometrial and ovarian epithelium in hereditary nonpolyposis colorectal cancer family members

1 reference

12 December 2020

Immunohistochemistry for hMLH1 and hMSH2: a practical test for DNA mismatch repair-deficient tumors

1 reference

12 December 2020

Identifiers

DOI

10.1086/337944

1 reference

19 August 2017

1 reference

19 August 2017

1 reference