Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

MLH1-Gen

Das MLH1-Gen wurde bei hereditärem nichtpolypösem Coloncarcinom mutiert gefunden.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Referenzen:

1.

Simpkins SB et al. (1999) MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers.

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2.

Liu T et al. (1999) Missense mutations in hMLH1 associated with colorectal cancer.

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3.

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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4.

Wheeler JM et al. (2000) The role of hypermethylation of the hMLH1 promoter region in HNPCC versus MSI+ sporadic colorectal cancers.

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5.

Huang SC et al. (2001) Germline characterization of early-aged onset of hereditary non-polyposis colorectal cancer.

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6.

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

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7.

Chan TL et al. (2001) A novel germline 1.8-kb deletion of hMLH1 mimicking alternative splicing: a founder mutation in the Chinese population.

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8.

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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9.

Stella A et al. (2001) A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families.

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10.

Trojan J et al. (2002) Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.

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11.

Bisgaard ML et al. (2002) Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation.

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12.

Gazzoli I et al. (2002) A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor.

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13.

Viel A et al. (2002) Different molecular mechanisms underlie genomic deletions in the MLH1 Gene.

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14.

Froenicke L et al. (2002) Male mouse recombination maps for each autosome identified by chromosome painting.

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15.

Wang Q et al. (2003) Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

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16.

Green RC et al. (2003) Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred.

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17.

Wei SC et al. (2003) Low mutation rate of hMSH2 and hMLH1 in Taiwanese hereditary non-polyposis colorectal cancer.

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18.

Gorlov IP et al. (2003) Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers.

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19.

Trimbath JD et al. (2001) Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?

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20.

Taylor CF et al. (2003) Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

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21.

Suter CM et al. (2004) Germline epimutation of MLH1 in individuals with multiple cancers.

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22.

Raevaara TE et al. (2004) HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.

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23.

Lipkin SM et al. (2004) The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer.

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24.

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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25.

Bjornsson HT et al. (2004) An integrated epigenetic and genetic approach to common human disease.

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26.

Oliveira C et al. (2004) Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status.

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27.

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

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28.

Rey JM et al. (2004) Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer.

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29.

McVety S et al. (2006) Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family.

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30.

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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31.

Ostergaard JR et al. (2005) Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.

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32.

Guillon H et al. (2005) Crossover and noncrossover pathways in mouse meiosis.

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33.

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

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34.

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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35.

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

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36.

Kadyrov FA et al. (2006) Endonucleolytic function of MutLalpha in human mismatch repair.

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37.

Hitchins MP et al. (2007) Inheritance of a cancer-associated MLH1 germ-line epimutation.

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38.

Gosden RG et al. (2007) Genetics and epigenetics--nature's pen-and-pencil set.

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39.

Poley JW et al. (2007) Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.

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40.

Morak M et al. (2008) Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC.

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41.

Avdievich E et al. (2008) Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis.

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42.

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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43.

Clyne M et al. (2009) The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome.

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44.

Vasen HF et al. (1991) The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC).

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45.

Lynch HT et al. (1985) Muir-Torre syndrome in several members of a family with a variant of the Cancer Family Syndrome.

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46.

Nyström-Lahti M et al. (1995) Founding mutations and Alu-mediated recombination in hereditary colon cancer.

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47.

Katabuchi H et al. (1995) Mutations in DNA mismatch repair genes are not responsible for microsatellite instability in most sporadic endometrial carcinomas.

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48.

Hamilton SR et al. (1995) The molecular basis of Turcot's syndrome.

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49.

Liu B et al. (1995) Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability.

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50.

Paraf F et al. (1995) Clinicopathological relevance of the association between gastrointestinal and sebaceous neoplasms: the Muir-Torre syndrome.

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51.

Han HJ et al. (1995) Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC)

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52.

Li GM et al. (1995) Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs.

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53.

Lindblom A et al. (1993) Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer.

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54.

Papadopoulos N et al. (1994) Mutation of a mutL homolog in hereditary colon cancer.

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55.

Bronner CE et al. (1994) Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.

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56.

Green RC et al. (1994) Hereditary nonpolyposis colon cancer: analysis of linkage to 2p15-16 places the COCA1 locus telomeric to D2S123 and reveals genetic heterogeneity in seven Canadian families.

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57.

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

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58.

Wijnen J et al. (1996) Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.

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59.

Liu B et al. (1996) Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients.

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60.

Miyaki M et al. (1995) Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients.

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61.

Baker SM et al. (1996) Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over.

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62.

Bapat B et al. (1996) The genetic basis of Muir-Torre syndrome includes the hMLH1 locus.

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63.

Sasaki S et al. (1996) Somatic mutations of a human mismatch repair gene, hMLH1, in tumors from patients with multiple primary cancers.

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64.

Moisio AL et al. (1996) Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer.

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65.

Kane MF et al. (1997) Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines.

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66.

Jäger AC et al. (1997) Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hMLH1 expression.

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67.

Wang Y et al. (1997) Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue.

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68.

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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69.

Herman JG et al. (1998) Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma.

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70.

Veigl ML et al. (1998) Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers.

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71.

Shimodaira H et al. (1998) Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.

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72.

Ban C et al. (1998) Crystal structure and ATPase activity of MutL: implications for DNA repair and mutagenesis.

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73.

Yuan ZQ et al. (1998) I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer.

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74.

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

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75.

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

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