MLH1 gene
The MLH1 gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC).
Genetests:
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References:
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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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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.
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3. |
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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4. |
Papadopoulos N et al. (1994) Mutation of a mutL homolog in hereditary colon cancer.
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5. |
Lindblom A et al. (1993) Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer.
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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.
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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)
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8. |
Paraf F et al. (1995) Clinicopathological relevance of the association between gastrointestinal and sebaceous neoplasms: the Muir-Torre syndrome.
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9. |
Liu B et al. (1995) Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability.
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10. |
Hamilton SR et al. (1995) The molecular basis of Turcot's syndrome.
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11. |
Maliaka YK et al. (1996) CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.
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12. |
Nyström-Lahti M et al. (1995) Founding mutations and Alu-mediated recombination in hereditary colon cancer.
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13. |
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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14. |
Vasen HF et al. (1991) The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC).
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15. |
Clyne M et al. (2009) The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome.
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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.
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17. |
Avdievich E et al. (2008) Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis.
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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.
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19. |
Poley JW et al. (2007) Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.
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20. |
Jäger AC et al. (1997) Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hMLH1 expression.
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21. |
Wang Q et al. (1999) Neurofibromatosis and early onset of cancers in hMLH1-deficient children.
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22. |
Ricciardone MD et al. (1999) Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.
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23. |
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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24. |
Ban C et al. (1998) Crystal structure and ATPase activity of MutL: implications for DNA repair and mutagenesis.
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25. |
Shimodaira H et al. (1998) Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.
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26. |
Veigl ML et al. (1998) Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers.
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27. |
Herman JG et al. (1998) Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma.
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28. |
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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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.
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30. |
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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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.
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32. |
Moisio AL et al. (1996) Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer.
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33. |
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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34. |
Bapat B et al. (1996) The genetic basis of Muir-Torre syndrome includes the hMLH1 locus.
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35. |
Baker SM et al. (1996) Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over.
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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.
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37. |
Liu B et al. (1996) Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients.
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38. |
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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39. |
Stella A et al. (2001) A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families.
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40. |
Trimbath JD et al. (2001) Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?
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41. |
Gorlov IP et al. (2003) Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers.
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42. |
Wei SC et al. (2003) Low mutation rate of hMSH2 and hMLH1 in Taiwanese hereditary non-polyposis colorectal cancer.
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43. |
Green RC et al. (2003) Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred.
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44. |
Froenicke L et al. (2002) Male mouse recombination maps for each autosome identified by chromosome painting.
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45. |
Viel A et al. (2002) Different molecular mechanisms underlie genomic deletions in the MLH1 Gene.
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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.
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47. |
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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48. |
Trojan J et al. (2002) Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
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49. |
Hitchins MP et al. (2007) Inheritance of a cancer-associated MLH1 germ-line epimutation.
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50. |
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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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.
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52. |
Vilkki S et al. (2001) Extensive somatic microsatellite mutations in normal human tissue.
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53. |
Huang SC et al. (2001) Germline characterization of early-aged onset of hereditary non-polyposis colorectal cancer.
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54. |
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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55. |
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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56. |
Liu T et al. (1999) Missense mutations in hMLH1 associated with colorectal cancer.
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57. |
Wang Q et al. (2003) Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.
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58. |
Suter CM et al. (2004) Germline epimutation of MLH1 in individuals with multiple cancers.
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59. |
Gosden RG et al. (2007) Genetics and epigenetics--nature's pen-and-pencil set.
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60. |
Kadyrov FA et al. (2006) Endonucleolytic function of MutLalpha in human mismatch repair.
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61. |
Barnetson RA et al. (2006) Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.
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62. |
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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63. |
Pagenstecher C et al. (2006) Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
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64. |
Guillon H et al. (2005) Crossover and noncrossover pathways in mouse meiosis.
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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.
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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.
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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.
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68. |
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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69. |
Alazzouzi H et al. (2005) Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis.
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70. |
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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71. |
Bjornsson HT et al. (2004) An integrated epigenetic and genetic approach to common human disease.
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72. |
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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73. |
Lipkin SM et al. (2004) The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer.
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74. |
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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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.
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76. |
Orphanet article
Orphanet ID 123263
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77. |
NCBI article
NCBI 4292
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78. |
OMIM.ORG article
Omim 120436
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79. |
Wikipedia article
Wikipedia EN (MLH1)
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Update: Aug. 14, 2020