(Q35053897)

6 August 2017

title

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions (English)

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6 August 2017

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15

Robert M W Hofstra

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6 August 2017

12

Predrag Radivojac

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6 August 2017

Bryony A Thompson

1

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Erin L Young

Erin L Young

6

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Alun Thomas

Alun Thomas

18

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Amanda Spurdle

Amanda B Spurdle

20

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Sean D Mooney

11

Sean D Mooney

1 reference

6 August 2017

19

David E Goldgar

1 reference

6 August 2017

16

Rolf H Sijmons

1 reference

6 August 2017

Marc S Greenblatt

2

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6 August 2017

Maxime P Vallee

3

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6 August 2017

Johanna C Herkert

4

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6 August 2017

Chloe Tessereau

5

1 reference

6 August 2017

Ivan A Adzhubey

7

1 reference

6 August 2017

Biao Li

8

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6 August 2017

Russell Bell

9

1 reference

6 August 2017

Bingjian Feng

10

1 reference

6 August 2017

Shamil R Sunyaev

13

1 reference

6 August 2017

Thierry Frebourg

14

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6 August 2017

Ken Boucher

17

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6 August 2017

Sean V Tavtigian

21

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6 August 2017

publication date

22 October 2012

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6 August 2017

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6 August 2017

volume

34

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6 August 2017

issue

1

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6 August 2017

page(s)

255-265

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A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Predicting the functional impact of protein mutations: application to cancer genomics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Classifying variants of CDKN2A using computational and laboratory studies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

A method and server for predicting damaging missense mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Automated inference of molecular mechanisms of disease from amino acid substitutions.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Distress among women receiving uninformative BRCA1/2 results: 12-month outcomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Assessment of functional effects of unclassified genetic variants

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

In silico analysis of missense substitutions using sequence-alignment based methods

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

M-Coffee: combining multiple sequence alignment methods with T-Coffee

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Accounting for human polymorphisms predicted to affect protein function

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

8 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22214

Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22214

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22214

Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22214

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/10.1002%2FHUMU.22214

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/10.1002%2FHUMU.22214

Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318556

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer

25 October 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22214

Classification of mismatch repair gene missense variants with PON-MMR

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22214

Performance of mutation pathogenicity prediction methods on missense variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22214

Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22214

Integrated analysis of unclassified variants in mismatch repair genes

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22949387

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22949387

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22214

1 reference

6 August 2017

1 reference

6 August 2017

1 reference