(Q35594437)

9 August 2017

title

Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing (English)

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9 August 2017

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M Cravo

1

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9 August 2017

A J Afonso

2

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9 August 2017

P Lage

3

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9 August 2017

C Albuquerque

4

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9 August 2017

L Maia

5

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9 August 2017

C Lacerda

6

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9 August 2017

P Fidalgo

7

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9 August 2017

P Chaves

8

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9 August 2017

C Cruz

9

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9 August 2017

C Nobre-Leitão

10

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9 August 2017

language of work or name

English

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publication date

1 March 2002

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9 August 2017

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9 August 2017

volume

50

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9 August 2017

issue

3

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9 August 2017

page(s)

405-412

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Genetic testing in hereditary colorectal cancer: indications and procedures

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch Syndrome).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

Mutation detection by denaturing gradient gel electrophoresis (DGGE).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

Mutation of a mutL homolog in hereditary colon cancer

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

Immunohistochemical detection of mismatch repair gene proteins as a useful tool for the identification of colorectal carcinoma with the mutator phenotype.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

Benefits of colonoscopic surveillance and prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer mutations

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

The risk of endometrial cancer in hereditary nonpolyposis colorectal cancer.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

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

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

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

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773142

Interpretation of Genetic Test Results for Hereditary Nonpolyposis Colorectal Cancer

15 November 2018

1 reference

12 December 2020

Missense and nonsense mutations in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds

1 reference

12 December 2020

Missense mutations in hMLH1 associated with colorectal cancer

1 reference

12 December 2020

Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, Adopted on February 20, 1996

1 reference

12 December 2020

MSH2 sequence variations and inherited colorectal cancer susceptibility

1 reference

12 December 2020

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

12 December 2020

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

1 reference

12 December 2020

Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients

1 reference

12 December 2020

Brief, high-temperature heat denaturation (pressure cooking): a simple and effective method of antigen retrieval for routinely processed tissues

1 reference

12 December 2020

Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability

1 reference

12 December 2020

Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

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

1 reference

12 December 2020

DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer

1 reference

12 December 2020

Mutations in MLH1 are more frequent than in MSH2 in sporadic colorectal cancers with microsatellite instability

1 reference

12 December 2020

Cancer risk associated with germline DNA mismatch repair gene mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer

1 reference

12 December 2020

Identifiers

DOI

10.1136/GUT.50.3.405

1 reference

9 August 2017

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9 August 2017

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