Wissenschaftliche Information:

Methodik:

Literatur: 

Alazzouzi H et al. (2005) Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis.
Aquilina G et al. (1994) A mismatch recognition defect in colon carcinoma confers DNA microsatellite instability and a mutator phenotype.
Barana D et al. (2004) Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC.
Barnetson RA et al. (2006) Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.
Bougeard G et al. (2003) Early onset brain tumor and lymphoma in MSH2-deficient children.
Brown KD et al. (2003) The mismatch repair system is required for S-phase checkpoint activation.
Chan TL et al. (2004) MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population.
Chan TL et al. (2006) Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer.
Desai DC et al. (2000) Recurrent germline mutation in MSH2 arises frequently de novo.
DeWeese TL et al. (1998) Mouse embryonic stem cells carrying one or two defective Msh2 alleles respond abnormally to oxidative stress inflicted by low-level radiation.
de Wind N et al. (1995) Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer.
Duval A et al. (2004) The mutator pathway is a feature of immunodeficiency-related lymphomas.
Ellison AR et al. (2001) Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.
Esche C et al. (1997) Muir-Torre syndrome: clinical features and molecular genetic analysis.
Fishel R et al. (1994) Binding of mismatched microsatellite DNA sequences by the human MSH2 protein.
Fishel R et al. (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.
Foulkes WD et al. (2002) The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.
Froggatt NJ et al. (1999) A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer.
Genuardi M et al. (1998) Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility.
Gradia S et al. (1997) The human mismatch recognition complex hMSH2-hMSH6 functions as a novel molecular switch.
Gradia S et al. (1999) hMSH2-hMSH6 forms a hydrolysis-independent sliding clamp on mismatched DNA.
Jeon HM et al. (1996) Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer.
Jin YH et al. (2003) Cadmium is a mutagen that acts by inhibiting mismatch repair.
Kets CM et al. (2009) Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2.
Kolodner RD et al. (1994) Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations.
Kovtun IV et al. (2004) Somatic deletion events occur during early embryonic development and modify the extent of CAG expansion in subsequent generations.
Kurzawski G et al. (2006) Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
Lamers MH et al. (2000) The crystal structure of DNA mismatch repair protein MutS binding to a G x T mismatch.
Leach FS et al. (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.
Lishanski A et al. (1994) Mutation detection by mismatch binding protein, MutS, in amplified DNA: application to the cystic fibrosis gene.
Liu B et al. (1994) hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds.
Lowsky R et al. (1997) Defects of the mismatch repair gene MSH2 are implicated in the development of murine and human lymphoblastic lymphomas and are associated with the aberrant expression of rhombotin-2 (Lmo-2) and Tal-1 (SCL).
Lynch HT et al. (2004) A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States.
Maliaka YK et al. (1996) CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.
Mangold E et al. (2004) A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.
Mary JL et al. (1994) Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development.
McMurray CT et al. (2003) Cancer, cadmium and genome integrity.
Ni TT et al. (1999) MSH2 and MSH6 are required for removal of adenine misincorporated opposite 8-oxo-guanine in S. cerevisiae.
Orth K et al. (1994) Genetic instability in human ovarian cancer cell lines.
Pagenstecher C et al. (2006) Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
Pearson CE et al. (1997) Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases.
Pyatt RE et al. (2003) Identification of a deletion in the mismatch repair gene, MSH2, using mouse-human cell hybrids monosomal for chromosome 2.
Quehenberger F et al. (2005) Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment.
Reitmair AH et al. (1995) MSH2 deficient mice are viable and susceptible to lymphoid tumours.
Ricciardone MD et al. (1999) Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.
Stella A et al. (2007) Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.
Sun S et al. (2005) The HNPCC associated MSH2*1906G-->C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population.
Tournier I et al. (2008) A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
Umar A et al. (1994) Defective mismatch repair in extracts of colorectal and endometrial cancer cell lines exhibiting microsatellite instability.
van der Klift H et al. (2005) Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC).
Vilkki S et al. (2001) Extensive somatic microsatellite mutations in normal human tissue.
Wada-Hiraike O et al. (2005) The DNA mismatch repair gene hMSH2 is a potent coactivator of oestrogen receptor alpha.
Wagner A et al. (2003) 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.
Wagner A et al. (2002) A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred.
Wang Q et al. (1999) Neurofibromatosis and early onset of cancers in hMLH1-deficient children.
Wang Y et al. (2000) BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures.
Wang Y et al. (2002) A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1.
Wheeler VC et al. (2003) Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum.
Whiteside D et al. (2002) A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots.
Wijnen J et al. (1995) Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis.
Yan H et al. (2000) Conversion of diploidy to haploidy.
Yuan ZQ et al. (1999) A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening.