Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. (Q33640008)

28 July 2017

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. (English)

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28 July 2017

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Tanios Bekaii-Saab

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28 July 2017

Sigurdis Haraldsdottir

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object named as

Sigurdis Haraldsdottir

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Albert de la Chapelle

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object named as

Albert de la Chapelle

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Thorunn Rafnar

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object named as

Thorunn Rafnar

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28 July 2017

7

Petur Snaebjornsson

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28 July 2017

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Pall H Moller

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Patrick Sulem

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Kari Stefansson

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28 July 2017

Wendy L Frankel

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28 July 2017

Sylvia Einarsdottir

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28 July 2017

Asgeir Sigurdsson

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28 July 2017

Heather Hampel

6

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28 July 2017

Gisli Masson

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28 July 2017

Daniel Weng

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Reynir Arngrimsson

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28 July 2017

Birte Kehr

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28 July 2017

Ahmet Yilmaz

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28 July 2017

Stefan Haraldsson

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28 July 2017

Tryggvi Stefansson

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28 July 2017

Peter G Shields

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Fridbjorn Sigurdsson

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28 July 2017

Margret Steinarsdottir

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28 July 2017

Kristin Alexiusdottir

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Megan Hitchins

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Colin C Pritchard

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Jon G Jonasson

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Richard M Goldberg

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28 July 2017

language of work or name

English

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publication date

3 May 2017

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28 July 2017

Nature Communications

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28 July 2017

8

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28 July 2017

14755

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Creative Commons Attribution 4.0 International

28 July 2017

start time

3 May 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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exact match

https://scigraph.springernature.com/pub.10.1038/ncomms14755

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cites work

ClinVar: public archive of interpretations of clinically relevant variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

Large-scale whole-genome sequencing of the Icelandic population

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

How do we approach the goal of identifying everybody with Lynch syndrome?

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

Comprehensive molecular characterization of human colon and rectal cancer

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

Parental origin of sequence variants associated with complex diseases

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

Detection of sharing by descent, long-range phasing and haplotype imputation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

A novel endonuclease IV post-PCR genotyping system

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

2002 William Allan Award Address. Inherited human diseases: victories, challenges, disappointments

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

The tumor spectrum in HNPCC.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5418568

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

14 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS14755

Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS14755

A modified Lynch syndrome screening algorithm in colon cancer: BRAF immunohistochemistry is efficacious and cost beneficial.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS14755

Microsatellite instability detection by next generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS14755

Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS14755

Incidence of Hereditary Nonpolyposis Colorectal Cancer and the Feasibility of Molecular Screening for the Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS14755

Molecular Screening for Hereditary Nonpolyposis Colorectal Cancer: A Prospective, Population-Based Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS14755

Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS14755

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NCOMMS14755

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Dimensions Publication ID

28 July 2017

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28 July 2017

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