Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers (Q34289520)

1 August 2017

title

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers (English)

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1 August 2017

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Bjørn Ivar Haukanes

2

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Pål Møller

15

object named as

Pål Møller

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1 August 2017

Wenche Sjursen

1

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1 August 2017

Eli Marie Grindedal

3

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1 August 2017

Harald Aarset

4

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1 August 2017

Astrid Stormorken

5

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1 August 2017

Lars F Engebretsen

6

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1 August 2017

Christoffer Jonsrud

7

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1 August 2017

Inga Bjørnevoll

8

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1 August 2017

Per Arne Andresen

9

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1 August 2017

Sarah Ariansen

10

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1 August 2017

Liss Anne S Lavik

11

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1 August 2017

Bodil Gilde

12

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1 August 2017

Inger Marie Bowitz-Lothe

13

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1 August 2017

Lovise Maehle

14

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1 August 2017

language of work or name

English

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publication date

28 June 2010

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Journal of Medical Genetics

1 August 2017

published in

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1 August 2017

volume

47

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1 August 2017

issue

9

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1 August 2017

page(s)

579-585

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Performance of clinical guidelines compared with molecular tumour screening methods in identifying possible Lynch syndrome among colorectal cancer patients: a Norwegian population-based study

1 August 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

Risks of Lynch syndrome cancers for MSH6 mutation carriers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

Identification of HNPCC by molecular analysis of colorectal and endometrial tumors.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

Lynch syndrome: history and current status

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

Familial endometrial cancer in female carriers of MSH6 germline mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

Genomic organization of the human PMS2 gene family.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

Founding mutations and Alu-mediated recombination in hereditary colon cancer

6 July 2018

1 reference

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Recommendations to improve identification of hereditary and familial colorectal cancer in Europe.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

Origins and prevalence of the American Founder Mutation of MSH2.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

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=2976029

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=2976029

Germ-Line Mutations in Mismatch Repair Genes Associated with Prostate Cancer

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976029

Awareness of heredity in colorectal cancer patients is insufficient among clinicians: a Norwegian population-based study

28 October 2018

1 reference

12 December 2020

A new variant database for mismatch repair genes associated with Lynch syndrome

1 reference

12 December 2020

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays

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12 December 2020

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

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12 December 2020

Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours

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12 December 2020

Identifiers

DOI

10.1136/JMG.2010.077677

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1 August 2017

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1 August 2017

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