Mutations in the hMLH1 gene in Slovenian patients with gastric carcinoma

Clinical Genetics

Volumn 65, Issue 5, 2004, Pages 405-411

  Hudler, P ^a   Voulk, K ^a   Liovic, M ^a   Repse, S ^a   Juvan, R ^a   Komel, Radovan ^a  

^a UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

Author keywords

DNA methylation; Gastric cancer; hMLH1; Microsatellite instability; Mutation analysis

Indexed keywords

ADENINE; GUANINE; ONCOPROTEIN; PROTEIN MLH1; TUMOR SUPPRESSOR PROTEIN; TYROSINE;

APOPTOSIS; ARTICLE; CANCER PATIENT; CARCINOGENESIS; CELL PROLIFERATION; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENE SILENCING; GENETIC ASSOCIATION; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC TRANSCRIPTION; GENOTYPE; GERM LINE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; METHYLATION; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; NUCLEOTIDE REPEAT; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SLOVENIA; STOMACH CARCINOMA; STOMACH SURGERY;

CARCINOMA; CARRIER PROTEINS; DNA METHYLATION; DNA REPLICATION; HUMANS; MICROSATELLITE REPEATS; MUTATION; NEOPLASM PROTEINS; NUCLEAR PROTEINS; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROMOTER REGIONS (GENETICS); SLOVENIA; STOMACH NEOPLASMS;

EID: 2442653947     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0009-9163.2004.0234.x     Document Type: Article

References (37)

1. Wu CW, Chen GD, Jiang KC et al. A genome-wide study of microsatellite instability in advanced gastric carcinoma. Cancer 2001: 92: 92-101.
2. Leung WK, Yu J, Ng EK et al. Concurrent hypermethylation of multiple tumor-related genes in gastric carcinoma and adjacent normal tissues. Cancer 2001: 91: 2294-2301.
3. Tamura G, Sato K, Akiyama S et al. Molecular characterization of undifferentiated-type gastric carcinoma. Lab Invest 2001: 81: 593-598.
4. Ogata S, Tamura G, Endoh Y et al. Microsatellite alterations and target gene mutations in the early stages of multiple gastric cancer. J Pathol 2001: 194: 334-340.
5. Werner M, Becker KF, Keller G et al. Gastric adenocarcinoma: pathomorphology and molecular pathology. J Cancer Res Clin Oncol 2001: 127: 207-216.
6. Hsieh P. Molecular mechanisms of DNA mismatch repair. Mutat Res 2001: 486: 71-87.
7. Kim NG, Choi YR, Baek MJ et al. Frameshift mutations at coding mononucleotide repeats of the hRAD50 gene in gastrointestinal carcinomas with microsatellite instability. Cancer Res 2001: 61: 36-38.
8. Jiricny J. Replication errors: cha(lle)nging the genome. EMBO J 1998: 17: 6427-6436.
9. Prolla TA. DNA mismatch repair and cancer. Curr Opin Cell Biol 1998: 10: 311-316.
10. Esteller M. Epigenetic lesions causing genetic lesions in human cancer. Promoter hypermethylation of DNA repair genes. Eur J Cancer 2000: 36: 2294-2300.
11. Loeb LA. A Mutator Phenotype in Cancer. Cancer Res 2001: 61: 3230-3239.
12. Pinto M, Oliveira C, Machado JC et al. MSI-L gastric carcinomas share the hMLH1 methylation status of MSI-H carcinomas but not their clinicopathological profile [in Process Citation]. Lab Invest 2000: 80: 1915-1923.
13. Leung SY, Yuen ST, Chung LP et al. hMLH1 promoter methylation and lack of hMLH1 expression in sporadic gastric carcinomas with high-frequency microsatellite instability. Cancer Res 1999: 59: 159-164.
14. Gazvoda B, Repse S, Juvan R et al. Microsatellite instability in gastric carcinomas from Slovenian patients using automated fluorescent PCR - microsatellite analysis. In: DNA, RNA and Cancer: Advances in Gene Technology. Proceedings of the 2000 Miami Nature Biotechnology Winter Symposium. Miami, February 5-9, 2000, Miami Nature Biotechnology, Short Reports. San Diego: Academic Press, 2000.
15. Miller SA, Dykes DD, Polesky HE A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988: 16: 1215.
16. Beck NE, Tomlinson IP, Homfray T et al. Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria. Hum Genet 1997: 99: 219-224.
17. Farrington SM, Lin-Goerke J, Ling J et al. Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. Am J Hum Genet 1998: 63: 749-759.
18. Kolodner RD, Hall NR, Lipford J et al. Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations. Cancer Res 1995: 55: 242-248.
19. Wu MS, Lee CW, Shun CT et al. Distinct clinicopathologic and genetic profiles in sporadic gastric cancer with different mutator phenotypes. Genes Chromosomes Cancer 2000: 27: 403-411.
20. Bevilacqua RA, Simpson AJ. Methylation of the hMLH1 promoter but no hMLH1 mutations in sporadic gastric carcinomas with high-level microsatellite instability. Int J Cancer 2000: 87: 200-203.
21. Tannergard P, Lipford JR, Kolodner R et al. Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. Cancer Res 1995: 55: 6092-6096.
22. Chiaravalli AM, Furlan D, Facco C et al. Immunohistochemical pattern of hMSH2/hMLH1 in familial and sporadic colorectal, gastric, endometrial and ovarian carcinomas with instability in microsatellite sequences. Virchows Arch 2001: 438: 39-48.
23. Rost B, Sander C. Improved prediction of protein secondary structure by use of sequence profiles and neural networks. Proc Natl Acad Sci USA 1993: 90: 7558-7562.
24. Rost B. PHD: predicting one-dimensional protein structure by profile-based neural networks. Methods Enzymol 1996: 266: 525-539.
25. Raschle M, Dufner P, Marra G et al. Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha. J Biol Chem 2002: 277: 21810-21820.
26. Fodde R, Smits R. Cancer biology. A matter of dosage. Science 2002: 298: 761-763.
27. Ohmiya N, Matsumoto S, Yamamoto H et al. Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype. Gene 2001: 272: 301-313.
28. Nystrom-Lahti M, Holmberg M, Fidalgo P et al. Missense and nonsense mutations in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds. Genes Chromosomes Cancer 1999: 26: 372-375.
29. Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 2002: 3: 285-298.
30. Hutter P, Couturier A, Rey-Berthod C. Two common forms of the human MLH1 gene may be associated with functional differences. J Med Genet 2000: 37: 776-781.
31. Majewski J, Ott J. Distribution and characterization of regulatory elements in the human genome. Genome Res 2002: 12: 1827-1836.
32. Sud R, Wells D, Talbot IC et al. Genetic alterations in gastric cancers from British patients. Cancer Genet Cytogenet 2001: 126: 111-119.
33. Marais G, Duret L. Synonymous codon usage, accuracy of translation, and gene length in Caenorhabditis elegans. J Mol Evol 2001: 52: 275-280.
34. Cuppens H, Lin W, Jaspers M et al. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest 1998: 101: 487-496.
35. Kang YH, Bae SI, Kim WH. Comprehensive analysis of promoter methylation and altered expression of hMLH1 in gastric cancer cell lines with microsatellite instability. J Cancer Res Clin Oncol 2002: 128: 119-124.
36. Carvalho B, Pinto M, Cirnes L et al. Concurrent hypermethylation of gene promoters is associated with a MSI-H phenotype and diploidy in gastric carcinomas. Eur J Cancer 2003: 39: 1222-1227.
37. Peltomaki P. DNA mismatch repair and cancer. Mutat Res 2001: 488: 77-85.