(Q34686576)

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

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1 reference

Europe PubMed Central

3 August 2017

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

1 reference

Europe PubMed Central

3 August 2017

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Arend von Stackelberg

7

object named as

Arend von Stackelberg

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Europe PubMed Central

3 August 2017

author name string

Stefan Krüger

1

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Europe PubMed Central

3 August 2017

Miriam Kinzel

2

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Europe PubMed Central

3 August 2017

Constanze Walldorf

3

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Europe PubMed Central

3 August 2017

Sven Gottschling

4

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Europe PubMed Central

3 August 2017

Andrea Bier

5

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Europe PubMed Central

3 August 2017

Sigrid Tinschert

6

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Europe PubMed Central

3 August 2017

Wolfram Henn

8

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Europe PubMed Central

3 August 2017

Heike Görgens

9

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Europe PubMed Central

3 August 2017

Stephanie Boue

10

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Europe PubMed Central

3 August 2017

Konrad Kölble

11

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Europe PubMed Central

3 August 2017

Reinhard Büttner

12

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Europe PubMed Central

3 August 2017

Hans K Schackert

13

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3 August 2017

publication date

12 September 2007

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Europe PubMed Central

3 August 2017

European Journal of Human Genetics

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Europe PubMed Central

3 August 2017

16

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Europe PubMed Central

3 August 2017

1

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Europe PubMed Central

3 August 2017

62-72

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Europe PubMed Central

3 August 2017

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201923

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

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Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

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Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome

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Analysis of mismatch repair genes in hereditary non–polyposis colorectal cancer patients

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Deficient DNA mismatch repair: a common etiologic factor for colon cancer

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Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium.

1 reference

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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

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Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation

1 reference

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Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer

1 reference

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Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201923

7 January 2021

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Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201923

7 January 2021

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PMS2 mutations in childhood cancer

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201923

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Genetic susceptibility to prostate cancer: a review.

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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.5201923

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

1 reference

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7 January 2021

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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.5201923

7 January 2021

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Early onset brain tumor and lymphoma in MSH2-deficient children

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201923

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A homozygous mutation in MSH6 causes Turcot syndrome.

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

1 reference

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Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6

1 reference

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201923

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The molecular basis of Turcot's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201923

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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.5201923

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201923

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201923

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201923

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

1 reference

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Hypothesis: Possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defects.

1 reference

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Identification of six novel MSH2 and MLH1 germline mutations in HNPCC

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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

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Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations

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Human non-synonymous SNPs: server and survey

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

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Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase

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ATP-dependent interaction of human mismatch repair proteins and dual role of PCNA in mismatch repair

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Consanguineous marriages in the Turkish population

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

1 reference

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A novelMSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years

1 reference

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1 reference

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

1 reference

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10.1038/SJ.EJHG.5201923

1 reference

Europe PubMed Central

3 August 2017

1 reference

Europe PubMed Central

3 August 2017

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