(Q48684523)

English

Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.

scientific article published in May 2006

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/16418736

Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor. (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/16418736

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Magnus von Knebel Doeberitz

8

object named as

Magnus von Knebel Doeberitz

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/16418736

author name string

Jens Plaschke

1

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/16418736

Michael Linnebacher

2

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/16418736

Matthias Kloor

3

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/16418736

Johannes Gebert

4

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/16418736

Friedrich W Cremer

5

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/16418736

Sigrid Tinschert

6

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/16418736

Daniela E Aust

7

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/16418736

Hans K Schackert

9

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/16418736

publication date

1 May 2006

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/16418736

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/16418736

14

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/16418736

5

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/16418736

561-566

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/16418736

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201568

0 references

Genetic predisposition to colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

21 January 2018

Clues to the pathogenesis of familial colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

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Familial endometrial cancer in female carriers of MSH6 germline mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

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Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

21 January 2018

MSH6 germline mutations are rare in colorectal cancer families.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

21 January 2018

Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

21 January 2018

HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

21 January 2018

The molecular basis of Turcot's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

21 January 2018

Early onset brain tumor and lymphoma in MSH2-deficient children

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

21 January 2018

Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

21 January 2018

Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

21 January 2018

Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

21 January 2018

A homozygous mutation in MSH6 causes Turcot syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

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/10.1038%2FSJ.EJHG.5201568

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

21 January 2018

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://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

7 January 2021

based on heuristic

inferred from DOI database lookup

Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

7 January 2021

based on heuristic

inferred from DOI database lookup

Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

7 January 2021

based on heuristic

inferred from DOI database lookup

Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201568

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201568

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/16418736

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/16418736

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