(Q55465499)

English

Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I.

scientific article published on 20 December 2008

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Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I. (English)

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

1 reference

based on heuristic

inferred from title

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based on heuristic

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author name string

Helen Toledano

1

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

Yael Goldberg

2

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

Inbal Kedar-Barnes

3

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

Hagit Baris

4

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

Rinnat M Porat

5

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

Chen Shochat

6

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

Dani Bercovich

7

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

Eli Pikarsky

8

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

Israela Lerer

9

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

Isaac Yaniv

10

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

Dvorah Abeliovich

11

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

Tamar Peretz

12

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

publication date

20 December 2008

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

Familial Cancer

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

8

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

3

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

187-194

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of the human mismatch repair gene hMSH2 in normal and neoplastic tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HNPCC syndrome, microsatellite instability and NF1 gene alteration

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microsatellite instability and alterations in the hMSH2 gene in human ovarian cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MSH2 deficient mice are viable and susceptible to lymphoid tumours

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Msh2 deficiency enhances somatic Apc and p53 mutations in Apc+/-Msh2-/- mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

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/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microwave-based DNA extraction from paraffin-embedded tissue for PCR amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

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/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early onset brain tumor and lymphoma in MSH2-deficient children

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurofibromatosis and early onset of cancers in hMLH1-deficient children

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation spectrum in HNPCC in the Israeli population.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of hereditary nonpolyposis colorectal cancer.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Founding mutations and Alu-mediated recombination in hereditary colon cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular epidemiological analysis of the changing nature of a meningococcal outbreak following a vaccination campaign

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spontaneous intestinal carcinomas and skin neoplasms in Msh2-deficient mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A homozygous mutation in MSH6 causes Turcot syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A636P testing in Ashkenazi Jews

1 reference

https://pubmed.ncbi.nlm.nih.gov/19101824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10689-008-9227-3

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/19101824

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