Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

MLH1-Gen

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

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Referenzen:

1.

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

external link
2.

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.

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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)

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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.

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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

external link
23.

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

external link
24.

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

external link
25.

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

external link
26.

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

external link
27.

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

external link
28.

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

external link
29.

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.

external link
30.

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

external link
31.

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.

external link
32.

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

external link
33.

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

external link
34.

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

external link
35.

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

external link
36.

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.

external link
37.

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

external link
38.

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

external link
39.

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

external link
40.

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

external link
41.

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

external link
42.

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

external link
43.

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

external link
44.

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

external link
45.

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

external link
46.

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.

external link
47.

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

external link
48.

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

external link
49.

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

external link
50.

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

external link
51.

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

external link
52.

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

external link
53.

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

external link
54.

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

external link
55.

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

external link
56.

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

external link
57.

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

external link
58.

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

external link
59.

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

external link
60.

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

external link
61.

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

external link
62.

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

external link
63.

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

external link
64.

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

external link
65.

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

external link
66.

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

external link
67.

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.

external link
68.

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

external link
69.

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

external link
70.

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

external link
71.

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

external link
72.

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

external link
73.

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

external link
74.

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

external link
75.

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.

external link
76.

Orphanet article

Orphanet ID 123263 external link
77.

NCBI article

NCBI 4292 external link
78.

OMIM.ORG article

Omim 120436 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz