(Q36512734)

English

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

scientific article published on 11 October 2012

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scholarly article

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Europe PubMed Central

PMC publication ID

14 August 2017

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

1 reference

based on heuristic

inferred from title

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based on heuristic

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Bryony A Thompson

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Bryony A Thompson

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Daniel D Buchanan

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Daniel D Buchanan

19

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Mark A Jenkins

12

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Amanda B Spurdle

21

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Michael Parsons

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Michael T Parsons

7

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11

object named as

John L Hopper

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Steven Gallinger

9

object named as

Steven Gallinger

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Europe PubMed Central

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14 August 2017

Polly A Newcomb

15

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Polly A Newcomb

1 reference

Europe PubMed Central

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14 August 2017

Noralane Lindor

14

object named as

Noralane M Lindor

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14 August 2017

2

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David E Goldgar

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14 August 2017

author name string

Carol Paterson

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14 August 2017

Mark Clendenning

4

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14 August 2017

Rhiannon Walters

5

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14 August 2017

Sven Arnold

6

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14 August 2017

Walsh Michael D

8

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14 August 2017

Robert W Haile

10

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14 August 2017

Loic Lemarchand

13

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14 August 2017

Stephen N Thibodeau

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14 August 2017

Colon Cancer Family Registry

17

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Europe PubMed Central

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14 August 2017

Joanne P Young

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14 August 2017

Sean V Tavtigian

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14 August 2017

publication date

11 October 2012

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14 August 2017

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14 August 2017

34

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14 August 2017

1

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14 August 2017

200-209

1 reference

Europe PubMed Central

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14 August 2017

The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinics

1 reference

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30 September 2017

Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models

1 reference

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30 September 2017

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Risks of Lynch syndrome cancers for MSH6 mutation carriers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Assessment of functional effects of unclassified genetic variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Prediction and assessment of splicing alterations: implications for clinical testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Splicing in action: assessing disease causing sequence changes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Evidence for BRAF mutation and variable levels of microsatellite instability in a syndrome of familial colorectal cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

A full-likelihood method for the evaluation of causality of sequence variants from family data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Mutations of the BRAF gene in human cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

The crystal structure of DNA mismatch repair protein MutS binding to a G x T mismatch

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Crystal structures of mismatch repair protein MutS and its complex with a substrate DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

CpG island methylator phenotype in colorectal cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

Clonal transformation of adult human leukocytes by Epstein-Barr virus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

28 June 2018

Improved splice site detection in Genie

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

28 June 2018

Selection of patients with germline MLH1 mutated Lynch syndrome by determination of MLH1 methylation and BRAF mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

21 September 2018

The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

21 September 2018

Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

21 September 2018

Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

21 September 2018

BRAF mutations in colorectal carcinoma suggest two entities of microsatellite-unstable tumors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

21 September 2018

Promoter hypermethylation frequency and BRAF mutations distinguish hereditary non-polyposis colon cancer from sporadic MSI-H colon cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

21 September 2018

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

21 September 2018

BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

21 September 2018

Extensive methylation of hMLH1 promoter region predominates in proximal colon cancer with microsatellite instability.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

21 September 2018

Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

21 September 2018

Population-based molecular detection of hereditary nonpolyposis colorectal cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

21 September 2018

A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

21 September 2018

Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

21 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538359

21 September 2018

BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22213

21 January 2018

RAF/RAS oncogenes and mismatch-repair status

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22213

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22213

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22213

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22213

21 January 2018

Prevalence of germline mutations ofMLH1 andMSH2 in hereditary nonpolyposis colorectal cancer families from Spain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22213

21 January 2018

Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22213

21 January 2018

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22213

21 January 2018

The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22213

21 January 2018

Integrated analysis of unclassified variants in mismatch repair genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/22949379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22949379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A prospective, multicenter, population-based study of BRAF mutational analysis for Lynch syndrome screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/22949379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two germline alterations in mismatch repair genes found in a HNPCC patient with poor family history

1 reference

https://pubmed.ncbi.nlm.nih.gov/22949379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microsatellite instability in colorectal cancer: from molecular oncogenic mechanisms to clinical implications

1 reference

https://pubmed.ncbi.nlm.nih.gov/22949379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?

1 reference

https://pubmed.ncbi.nlm.nih.gov/22949379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining

1 reference

https://pubmed.ncbi.nlm.nih.gov/22949379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/22949379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors

1 reference

https://pubmed.ncbi.nlm.nih.gov/22949379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/22949379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Strategy in clinical practice for classification of unselected colorectal tumours based on mismatch repair deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/22949379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.22213

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

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