Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers (Q30906288)

20 August 2017

Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers (English)

1 reference

20 August 2017

1 reference

Katarina Zavodna

1

1 reference

20 August 2017

Tomas Krivulcik

2

1 reference

20 August 2017

Maria Gerykova Bujalkova

3

1 reference

20 August 2017

Tomas Slamka

4

1 reference

20 August 2017

David Martinicky

5

1 reference

20 August 2017

Denisa Ilencikova

6

1 reference

20 August 2017

Zdena Bartosova

7

1 reference

20 August 2017

language of work or name

English

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publication date

20 November 2009

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20 August 2017

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20 August 2017

9

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20 August 2017

405

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Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

Gene conversion: mechanisms, evolution and human disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

New aspects in molecular diagnosis of Lynch syndrome (HNPCC).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

Extensive molecular screening for hereditary non-polyposis colorectal cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

Founding mutations and Alu-mediated recombination in hereditary colon cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers.

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-9-405

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-9-405

Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-9-405

Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-9-405

Large genomic aberrations in MSH2 and MLH1 genes are frequent in Chinese colorectal cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-9-405

Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-9-405

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-9-405

Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-9-405

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-9-405

Loss or somatic mutations of hMSH2 occur in hereditary nonpolyposis colorectal cancers with hMSH2 germline mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-9-405

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-9-405

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-9-405

Large genomic rearrangements and germline epimutations in Lynch syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-9-405

No evidence for dual role of loss of heterozygosity in hereditary non-polyposis colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-9-405

Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-9-405

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-9-405

The role of clinical criteria, genetic and epigenetic alterations in Lynch-syndrome diagnosis.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788582

Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer

25 November 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-9-405

Causes of microsatellite instability in colorectal tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-9-405

Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia

21 January 2018

1 reference

12 December 2020

Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations

1 reference

12 December 2020

High proportion of large genomic rearrangements in hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families of the Basque Country

1 reference

12 December 2020

Redundant DNA methylation in colorectal cancers of Lynch-syndrome patients

1 reference

12 December 2020

Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments

1 reference

12 December 2020

A novel germline 1.8-kb deletion of hMLH1 mimicking alternative splicing: a founder mutation in the Chinese population

1 reference

12 December 2020

MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements

1 reference

12 December 2020

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

1 reference

12 December 2020

Evidence for two bladder cancer suppressor loci on human chromosome 9

1 reference

12 December 2020

Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer

1 reference

12 December 2020

MSH2 genomic deletions are a frequent cause of HNPCC

1 reference

12 December 2020

Multiplex ligation-dependent probe amplification for the detection of chromosomal gains and losses in formalin-fixed tissue

1 reference

12 December 2020

Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families

1 reference

12 December 2020

Genomic rearrangements in MSH2 and MLH1 are rare mutational events in Spanish patients with hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences

1 reference

12 December 2020

Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)

1 reference

12 December 2020

Dual role of LOH at MMR loci in hereditary non-polyposis colorectal cancer?

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2407-9-405

1 reference

Dimensions Publication ID

20 August 2017

0 references

1 reference

20 August 2017

PubMed publication ID

19930554

1 reference