Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms (Q35053925)

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English	Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

6 August 2017

Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms (English)

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6 August 2017

colorectal cancer

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based on heuristic

inferred from title

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Laura De Lellis

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Laura De Lellis

1

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Alessandro Cama

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Alessandro Cama

15

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Lucio Bertario

13

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Paolo Radice

14

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6

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Serena Veschi

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6 August 2017

Maria Cristina Curia

3

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Maria Cristina Curia

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6 August 2017

Teresa Catalano

4

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Teresa Catalano

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6 August 2017

Cristina Mareni

11

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Cristina Mareni

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6 August 2017

author name string

Gitana Maria Aceto

2

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6 August 2017

Sandra Mammarella

5

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6 August 2017

Fabiana Fantini

7

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6 August 2017

Pasquale Battista

8

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6 August 2017

Vittoria Stigliano

9

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6 August 2017

Luca Messerini

10

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6 August 2017

Paola Sala

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6 August 2017

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publication date

20 November 2013

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6 August 2017

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6 August 2017

8

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6 August 2017

11

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6 August 2017

e81194

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Europe PubMed Central

PubMed publication ID

6 August 2017

copyright license

Creative Commons Attribution 3.0 Unported

20 November 2013

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April 2022 Public Data File from Crossref

copyright status

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CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

Interpreting noncoding genetic variation in complex traits and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

Increased variance in germline allele-specific expression of APC associates with colorectal cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

Allele-specific expression of APC in adenomatous polyposis families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

Hereditary and familial colon cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

Detection of genetic alterations in hereditary colorectal cancer screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

Nonfluorescent denaturing HPLC-based primer-extension method for allele-specific expression: application to analysis of mismatch repair genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

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=3835792

8 July 2018

Functional analysis of HNPCC-related missense mutations in MSH2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

Heritable germline epimutation of MSH2 in a family with 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=3835792

8 July 2018

Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with 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=3835792

8 July 2018

Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

Cost effectiveness of a new strategy to identify HNPCC patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

8 July 2018

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

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

Increased frequency of disease-causing MYH mutations in colon cancer families.

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency.

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

Germline epimutation of MLH1 in individuals with multiple cancers

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

A hMLH1 genomic mutation and associated novel mRNA defects in a hereditary non-polyposis colorectal cancer family

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

Mechanisms of pathogenicity in human MSH2 missense mutants.

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

The Human Gene Mutation Database: 2008 update

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

Inheritance of a Cancer-AssociatedMLH1Germ-Line Epimutation

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

Analysis of gene copy number variations using a method based on lab-on-a-chip technology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

25 October 2018

Double frameshift mutations in APC and MSH2 in the same individual.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835792

25 October 2018

Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

A frequent hMSH2 mutation in hereditary non-polyposis colon cancer syndrome

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

Classification of mismatch repair gene missense variants with PON-MMR

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0081194

21 January 2018

Altered Expression of MLH1, MSH2, and MSH6 in Predisposition to Hereditary Nonpolyposis Colorectal Cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/24278394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements

1 reference

https://pubmed.ncbi.nlm.nih.gov/24278394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Integrated analysis of unclassified variants in mismatch repair genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/24278394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transcript dosage effect in familial adenomatous polyposis: model offered by two kindreds with exon 9 APC gene mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/24278394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays

1 reference

https://pubmed.ncbi.nlm.nih.gov/24278394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements

1 reference

https://pubmed.ncbi.nlm.nih.gov/24278394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of EPCAM protein expression in diagnostics of Lynch syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/24278394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unbalanced germ-line expression of hMLH1 and hMSH2 alleles in hereditary nonpolyposis colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/24278394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/24278394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1371/JOURNAL.PONE.0081194

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Europe PubMed Central

PubMed publication ID

6 August 2017

2013PLoSO...881194D

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

ResearchGate publication ID

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