Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome (Q35971538)

11 August 2017

Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome (English)

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11 August 2017

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William David Foulkes

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W D Foulkes

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S A Narod

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G Rennert

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11 August 2017

L Raskin

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F Schwenter

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M Freytsis

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11 August 2017

M Tischkowitz

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11 August 2017

N Wong

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G Chong

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D A Levine

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F Bogomolniy

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11 August 2017

M Aronson

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S N Thibodeau

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K S Hunt

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S Gallinger

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S B Gruber

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14 December 2010

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512-522

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How old is this mutation? - a study of three Ashkenazi Jewish founder mutations.

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

Microsatellite instability in colorectal cancer-the stable evidence

2 October 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

Risks of Lynch syndrome cancers for MSH6 mutation carriers

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

Feasibility of screening for Lynch syndrome among patients with colorectal cancer

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6

2 October 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

The HNPCC associated MSH2*1906G-->C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

The tumor spectrum in the Lynch syndrome

2 October 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

Genetic anthropology of the colorectal cancer-susceptibility allele APC I1307K: evidence of genetic drift within the Ashkenazim

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

MSH6 germline mutations are rare in colorectal cancer families.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

A New Statistical Method for Haplotype Reconstruction from Population Data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

Familial endometrial cancer in female carriers of MSH6 germline mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

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

2 October 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

2 October 2017

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01594.X

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4541773

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

11 July 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01594.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01594.X

DMLE+: Bayesian linkage disequilibrium gene mapping.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01594.X

The I1307K APC polymorphism in Ashkenazi Jews with colorectal cancer: clinical and pathologic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01594.X

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

21 January 2018

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12 December 2020

Gynecologic malignancies in Ashkenazi families with the MSH2 A636P founder mutation

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12 December 2020

Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients

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12 December 2020

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

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12 December 2020

BLM heterozygosity and the risk of colorectal cancer

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12 December 2020

Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2

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12 December 2020

10.1111/J.1399-0004.2010.01594.X

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DOI

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11 August 2017

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11 August 2017

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