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MSH2 gene

The MSH2 gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC).

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

References:

1.

Wijnen J et al. (1995) Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis.

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2.

Lynch HT et al. (2004) A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States.

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3.

Barana D et al. (2004) Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC.

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4.

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.

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5.

Duval A et al. (2004) The mutator pathway is a feature of immunodeficiency-related lymphomas.

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6.

Kovtun IV et al. (2004) Somatic deletion events occur during early embryonic development and modify the extent of CAG expansion in subsequent generations.

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7.

Wada-Hiraike O et al. (2005) The DNA mismatch repair gene hMSH2 is a potent coactivator of oestrogen receptor alpha.

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8.

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).

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9.

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.

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10.

Chan TL et al. (2006) Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer.

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11.

Stella A et al. (2007) Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.

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12.

Kets CM et al. (2009) Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2.

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13.

Lishanski A et al. (1994) Mutation detection by mismatch binding protein, MutS, in amplified DNA: application to the cystic fibrosis gene.

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14.

Reitmair AH et al. (1995) MSH2 deficient mice are viable and susceptible to lymphoid tumours.

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15.

de Wind N et al. (1995) Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer.

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16.

Kolodner RD et al. (1994) Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations.

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17.

Vilkki S et al. (2001) Extensive somatic microsatellite mutations in normal human tissue.

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18.

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.

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19.

Orth K et al. (1994) Genetic instability in human ovarian cancer cell lines.

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20.

Fishel R et al. (1994) Binding of mismatched microsatellite DNA sequences by the human MSH2 protein.

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21.

Liu B et al. (1994) hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds.

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22.

Aquilina G et al. (1994) A mismatch recognition defect in colon carcinoma confers DNA microsatellite instability and a mutator phenotype.

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23.

Umar A et al. (1994) Defective mismatch repair in extracts of colorectal and endometrial cancer cell lines exhibiting microsatellite instability.

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24.

Fishel R et al. (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.

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25.

Leach FS et al. (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.

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26.

Jeon HM et al. (1996) Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer.

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27.

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).

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28.

Pearson CE et al. (1997) Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases.

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29.

Esche C et al. (1997) Muir-Torre syndrome: clinical features and molecular genetic analysis.

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30.

Gradia S et al. (1997) The human mismatch recognition complex hMSH2-hMSH6 functions as a novel molecular switch.

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31.

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.

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32.

Jin YH et al. (2003) Cadmium is a mutagen that acts by inhibiting mismatch repair.

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33.

Wang Y et al. (2000) BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures.

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34.

Ellison AR et al. (2001) Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.

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35.

Mangold E et al. (2004) A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.

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36.

Alazzouzi H et al. (2005) Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis.

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37.

Quehenberger F et al. (2005) Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment.

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38.

Pagenstecher C et al. (2006) Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

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39.

Kurzawski G et al. (2006) Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).

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40.

Barnetson RA et al. (2006) Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.

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41.

Tournier I et al. (2008) A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

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42.

Maliaka YK et al. (1996) CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.

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43.

Genuardi M et al. (1998) Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility.

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44.

Ricciardone MD et al. (1999) Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.

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45.

Wang Q et al. (1999) Neurofibromatosis and early onset of cancers in hMLH1-deficient children.

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46.

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.

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47.

Gradia S et al. (1999) hMSH2-hMSH6 forms a hydrolysis-independent sliding clamp on mismatched DNA.

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48.

Yuan ZQ et al. (1999) A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening.

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49.

McMurray CT et al. (2003) Cancer, cadmium and genome integrity.

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50.

Pyatt RE et al. (2003) Identification of a deletion in the mismatch repair gene, MSH2, using mouse-human cell hybrids monosomal for chromosome 2.

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51.

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.

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52.

Wheeler VC et al. (2003) Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum.

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53.

Bougeard G et al. (2003) Early onset brain tumor and lymphoma in MSH2-deficient children.

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54.

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.

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55.

Brown KD et al. (2003) The mismatch repair system is required for S-phase checkpoint activation.

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56.

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.

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57.

Wang Y et al. (2002) A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1.

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58.

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.

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59.

Lamers MH et al. (2000) The crystal structure of DNA mismatch repair protein MutS binding to a G x T mismatch.

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60.

Desai DC et al. (2000) Recurrent germline mutation in MSH2 arises frequently de novo.

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61.

Yan H et al. (2000) Conversion of diploidy to haploidy.

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62.

Ni TT et al. (1999) MSH2 and MSH6 are required for removal of adenine misincorporated opposite 8-oxo-guanine in S. cerevisiae.

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63.

Orphanet article

Orphanet ID 123487 external link
64.

NCBI article

NCBI 4436 external link
65.

OMIM.ORG article

Omim 609309 external link
66.

Wikipedia article

Wikipedia EN (MSH2) external link
Update: Aug. 14, 2020
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