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 (Q33904639)

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English	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	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

29 July 2017

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 (English)

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Europe PubMed Central

PubMed publication ID

29 July 2017

colorectal cancer

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based on heuristic

inferred from title

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based on heuristic

inferred from title

colorectal carcinoma

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based on heuristic

inferred from title

14

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29 July 2017

Hanne Meijers-Heijboer

11

object named as

Hanne Meijers-Heijboer

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Albert de la Chapelle

20

object named as

Albert de la Chapelle

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object named as

Riccardo Fodde

22

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Hidewaki Nakagawa

7

object named as

Hidewaki Nakagawa

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29 July 2017

10

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Cor Breukel

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29 July 2017

12

object named as

Hans Morreau

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29 July 2017

author name string

Anja Wagner

1

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29 July 2017

Alicia Barrows

2

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29 July 2017

Juul Th Wijnen

3

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29 July 2017

Heleen van der Klift

4

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29 July 2017

Patrick F Franken

5

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29 July 2017

Paul Verkuijlen

6

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29 July 2017

Marjan Geugien

8

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29 July 2017

Shantie Jaghmohan-Changur

9

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29 July 2017

Marjo van Puijenbroek

13

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29 July 2017

Stephany Coronel

15

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29 July 2017

Yulia Kinarski

16

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29 July 2017

Ross Okimoto

17

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29 July 2017

Patrice Watson

18

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29 July 2017

Jane F Lynch

19

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29 July 2017

Henry T Lynch

21

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29 July 2017

language of work or name

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publication date

25 March 2003

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29 July 2017

American Journal of Human Genetics

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29 July 2017

72

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29 July 2017

5

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29 July 2017

1088-1100

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Europe PubMed Central

PubMed publication ID

29 July 2017

Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

EXO1 variants occur commonly in normal population: evidence against a role 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=1180263

5 July 2018

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=1180263

5 July 2018

A role for MLH3 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=1180263

5 July 2018

Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

AGA technical review on hereditary colorectal cancer and genetic testing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

Two common forms of the human MLH1 gene may be associated with functional differences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

Somatic Apc mutations are selected upon their capacity to inactivate the beta-catenin downregulating activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

Conversion of diploidy to haploidy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

Hereditary nonpolyposis colorectal cancer (HNPCC).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

Germ-line msh6 mutations in colorectal cancer families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

Familial endometrial cancer in female carriers of MSH6 germline mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

Cancer risk in mutation carriers of DNA-mismatch-repair genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 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=1180263

5 July 2018

Accumulated clonal genetic alterations in familial and sporadic colorectal carcinomas with widespread instability in microsatellite sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

Functional analysis of human MLH1 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=1180263

5 July 2018

Germline mutation of MSH6 as the cause 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=1180263

5 July 2018

Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of 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=1180263

5 July 2018

Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

Microsatellite instability in cancer of the proximal colon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

The human mutator gene homolog MSH2 and its association with 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=1180263

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

Mutations of two PMS 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=1180263

5 July 2018

The molecular basis of Turcot's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

Monoallelic mutation analysis (MAMA) for identifying germline mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

The 1993-94 Généthon human genetic linkage map

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

5 July 2018

Mutational analysis of promoters of mismatch repair genes hMSH2 and hMLH1 in hereditary nonpolyposis colorectal cancer and early onset colorectal cancer patients: identification of three novel germ-line mutations in promoter of the hMSH2 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

29 October 2018

Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

29 October 2018

A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

29 October 2018

Clinical impact of molecular genetic diagnosis, genetic counseling, and management of hereditary cancer. Part II: Hereditary nonpolyposis colorectal carcinoma as a model.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

29 October 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=1180263

29 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

29 October 2018

Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

29 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180263

29 October 2018

The role of hPMS1 and hPMS2 in predisposing to colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/12658575

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Low-level microsatellite instability occurs in most colorectal cancers and is a nonrandomly distributed quantitative trait

1 reference

https://pubmed.ncbi.nlm.nih.gov/12658575

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/12658575

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/12658575

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families

1 reference

https://pubmed.ncbi.nlm.nih.gov/12658575

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/12658575

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 10-Mb paracentric inversion of chromosome arm 2p inactivatesMSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/12658575

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)

1 reference

https://pubmed.ncbi.nlm.nih.gov/12658575

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/12658575

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DGGE polymorphism in intron 10 of MSH2, the HNPCC gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/12658575

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/12658575

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: Meeting Highlights and Bethesda Guidelines

1 reference

https://pubmed.ncbi.nlm.nih.gov/12658575

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MSH2 genomic deletions are a frequent cause of HNPCC

1 reference

https://pubmed.ncbi.nlm.nih.gov/12658575

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/12658575

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prediction of a mismatch repair gene defect by microsatellite instability and immunohistochemical analysis in endometrial tumours from HNPCC patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/12658575

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

PubMed publication ID

29 July 2017

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Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

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Europe PubMed Central

PubMed publication ID

29 July 2017

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