(Q34809944)

4 August 2017

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title

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? (English)

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4 August 2017

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Katharina Wimmer

1

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PubMed ID

18709565

4 August 2017

Julia Etzler

series ordinal

2

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4 August 2017

18 August 2008

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4 August 2017

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4 August 2017

124

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4 August 2017

2

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4 August 2017

105-122

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https://scigraph.springernature.com/pub.10.1007/s00439-008-0542-4

4 August 2017

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cites work

Microsatellite instability and mutation of DNA mismatch repair genes in gliomas.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-008-0542-4

Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.

21 January 2018

1 reference

12 December 2020

Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

1 reference

12 December 2020

Childhood T-cell non-Hodgkin's lymphoma, colorectal carcinoma and brain tumor in association with café-au-lait spots caused by a novel homozygous PMS2 mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

A human compound heterozygote for two MLH1 missense mutations

1 reference

12 December 2020

Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Compound heterozygosity for twoMSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus

1 reference

12 December 2020

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

1 reference

12 December 2020

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

1 reference

12 December 2020

The multifaceted mismatch-repair system

1 reference

12 December 2020

Extensive gene conversion at the PMS2 DNA mismatch repair locus

1 reference

12 December 2020

PMS2 mutations in childhood cancer

1 reference

12 December 2020

Extensive somatic microsatellite mutations in normal human tissue.

1 reference

12 December 2020

Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations

1 reference

12 December 2020

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

12 December 2020

Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome

1 reference

12 December 2020

Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players

1 reference

12 December 2020

Clues to the pathogenesis of familial colorectal cancer

1 reference

12 December 2020

Long-range PCR facilitates the identification of PMS2-specific mutations.

1 reference

12 December 2020

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

1 reference

12 December 2020

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

1 reference

12 December 2020

Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders

1 reference

12 December 2020

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

1 reference

12 December 2020

Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1

1 reference

12 December 2020

Role of DNA mismatch repair defects in the pathogenesis of human cancer

1 reference

12 December 2020

Endonucleolytic function of MutLalpha in human mismatch repair.

1 reference

12 December 2020

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

1 reference

12 December 2020

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference

1 reference

12 December 2020

The tumor spectrum in HNPCC.

1 reference

12 December 2020

Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies

1 reference

12 December 2020

Therapy-related myeloid leukemia

1 reference

12 December 2020

Hereditary colorectal cancer

1 reference

12 December 2020

The molecular basis of Turcot's syndrome

1 reference

12 December 2020

Nonrandom chromosome abnormalities in acute leukemia and dysmyelopoietic syndromes in patients with previously treated malignant disease

1 reference

12 December 2020

Early onset brain tumor and lymphoma in MSH2-deficient children

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

Clinical-cytogenetic associations in 306 patients with therapy-related myelodysplasia and myeloid leukemia: the University of Chicago series.

1 reference

12 December 2020

Neurofibromatosis and early onset of cancers in hMLH1-deficient children

1 reference

12 December 2020

Monosomy 7 myelodysplastic syndrome and other second malignant neoplasms in children with neurofibromatosis type 1

1 reference

12 December 2020

Mismatch repair and DNA damage signalling

1 reference

12 December 2020

Constitutive deficiency in DNA mismatch repair: is it time for Lynch III?

1 reference

12 December 2020

Missense mutations in hMLH1 associated with colorectal cancer

1 reference

12 December 2020

The hPMS2 exon 5 mutation and malignant glioma. Case report.

1 reference

12 December 2020

Microsatellite instability occurs in distinct subtypes of pediatric but not adult central nervous system tumors

1 reference

12 December 2020

Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

MutLalpha: at the cutting edge of mismatch repair

1 reference

12 December 2020

RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference

1 reference

12 December 2020

Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer

1 reference

12 December 2020

Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood.

1 reference

12 December 2020

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

1 reference

12 December 2020

Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.

1 reference

12 December 2020

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

1 reference

12 December 2020

Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Microsatellite instability and mutations of the transforming growth factor beta type II receptor gene in colorectal cancer

1 reference

12 December 2020

Biallelic PMS2 mutations and a distinctive childhood cancer syndrome

1 reference

12 December 2020

Sequential development of Wilms tumor, T-cell acute lymphoblastic leukemia, medulloblastoma and myeloid leukemia in a child with type 1 neurofibromatosis: a clinical and cytogenetic case report.

1 reference

12 December 2020

Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).

1 reference

12 December 2020

Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour

1 reference

12 December 2020

Constitutive deficiency in DNA mismatch repair

1 reference

12 December 2020

Clinical and cytogenetic correlations in 63 patients with therapy-related myelodysplastic syndromes and acute nonlymphocytic leukemia: further evidence for characteristic abnormalities of chromosomes no. 5 and 7

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Diagnostic outcome in children with multiple café au lait spots

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12 December 2020

Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes

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12 December 2020

A homozygous mutation in MSH6 causes Turcot syndrome.

1 reference

12 December 2020

10.1007/S00439-008-0542-4

Identifiers

DOI

1 reference

PubMed ID

18709565

Dimensions Publication ID

4 August 2017

0 references

1 reference

PubMed ID

18709565