(Q38129858)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23956446%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

title

Criteria and prediction models for mismatch repair gene mutations: a review (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23956446%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23956446%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Aung Ko Win

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23956446%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Robert J MacInnis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23956446%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Mark Jenkins

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23956446%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

author name string

Aung Ko Win

1

1 reference

29 August 2017

Robert J Macinnis

2

1 reference

29 August 2017

Mark A Jenkins

4

1 reference

29 August 2017

language of work or name

English

0 references

publication date

16 August 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23956446%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

7 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23956446%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

volume

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23956446%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23956446%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

page(s)

785-793

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23956446%20AND%20SRC:MED&resulttype=core&format=json

Hereditary Non-Polyposis Colorectal Cancer: the rise and fall of a confusing term

7 March 2020

cites work

1 reference

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Mutation of a mutL homolog in hereditary colon cancer

21 January 2018

1 reference

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

21 January 2018

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Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

21 January 2018

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

21 January 2018

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Mutations of two PMS homologues in hereditary nonpolyposis colon cancer

21 January 2018

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Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

21 January 2018

1 reference

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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

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

21 January 2018

1 reference

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Genetics of colon cancer: impact of inheritance on colon cancer risk

21 January 2018

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Feasibility of screening for Lynch syndrome among patients with colorectal cancer

21 January 2018

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

21 January 2018

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The incidence of Lynch syndrome

21 January 2018

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Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors

21 January 2018

1 reference

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The search for unaffected individuals with Lynch syndrome: do the ends justify the means?

21 January 2018

1 reference

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Population carrier frequency of hMSH2 and hMLH1 mutations

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Risk of pancreatic cancer in families with Lynch syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Elevated risk of prostate cancer among men with Lynch syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Risk of breast cancer in Lynch syndrome: a systematic review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Cancer risks for MLH1 and MSH2 mutation carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Decrease in mortality in Lynch syndrome families because of surveillance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

The effect of family size on estimates of the frequency of hereditary non-polyposis colorectal cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Prevalence of germline mutations of h MLH1 , h MSH2 , h PMS1 , h PMS2 , and h MSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

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/10.1136%2FJMEDGENET-2013-101803

Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients

21 January 2018

1 reference

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Suspected HNPCC and Amsterdam criteria II: evaluation of mutation detection rate, an international collaborative study.

21 January 2018

1 reference

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Tumour spectrum in hereditary non-polyposis colorectal cancer (HNPCC) and in families with "suspected HNPCC". A population-based study in northern Italy. Colorectal Cancer Study Group.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Hereditary colorectal cancer in china

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Identification of Lynch syndrome among patients with colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives

21 January 2018

1 reference

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BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer

21 January 2018

1 reference

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BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing

21 January 2018

1 reference

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Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis

21 January 2018

1 reference

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Hereditary nonpolyposis colorectal cancer: an update

21 January 2018

1 reference

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Cost-effectiveness of microsatellite instability screening as a method for detecting hereditary nonpolyposis colorectal cancer

21 January 2018

1 reference

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Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Prediction of germline mutations and cancer risk in the Lynch syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Assessing the performance of prediction models: a framework for traditional and novel measures

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Prediction of Lynch syndrome in consecutive patients with colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

A comparison of models used to predict MLH1, MSH2 and MSH6 mutation carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Performance of Lynch syndrome predictive models in a multi-center US referral population

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Evaluation of predictive models in daily practice for the identification of patients with Lynch syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Comparison of the clinical prediction model PREMM(1,2,6) and molecular testing for the systematic identification of Lynch syndrome in colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Performance of PREMM(1,2,6), MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Diagnosing Lynch syndrome: more light at the end of the tunnel

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Screening patients with colorectal cancer for Lynch syndrome: what are we waiting for?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Prediction models in Lynch syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Avoiding recomputation in linkage analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Use of Molecular Tumor Characteristics to Prioritize Mismatch Repair Gene Testing in Early-Onset Colorectal Cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Molecular screening of all colorectal tumors diagnosed before age 50 years followed by genetic testing efficiently identifies Lynch syndrome cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Prediction of MLH1 and MSH2 Mutations in Lynch Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Prediction Models: Revolutionary in Principle, But Do They Do More Good Than Harm?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

Mutation prediction models in Lynch syndrome: evaluation in a clinical genetic setting

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

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/10.1136%2FJMEDGENET-2013-101803

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

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/10.1136%2FJMEDGENET-2013-101803

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101803

10.1136/JMEDGENET-2013-101803

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23956446%20AND%20SRC:MED&resulttype=core&format=json

release_7htmowzdrnhp7e6okqvceyjydu

7 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7htmowzdrnhp7e6okqvceyjydu

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23956446%20AND%20SRC:MED&resulttype=core&format=json