Genotyping possible polymorphic variants of human mismatch repair genes in healthy Korean individuals and sporadic colorectal cancer patients

Familial Cancer

Volumn 3, Issue 2, 2004, Pages 129-137

  Kim, Jin C ^a,b   Roh, Seon A ^a,b   Koo, Kum H ^a,b   Ka, In H ^a,b   Kim, Hee C ^a,b   Yu, Chang S ^a,b   Lee, Kang H ^a,b   Kim, Jung S ^a   Lee, Han I ^c   Bodmer, Walter F ^d  

^a University of Ulsan College of Medicine   (South Korea)

^b Asan Institute for Life Sciences   (South Korea)

^c Catholic University of Daegu   (South Korea)

^d JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

Colorectal cancer; Korean; Mismatch repair gene; SNP

Indexed keywords

ADULT; AGED; ARTICLE; ASIAN; COLORECTAL CANCER; CONTROLLED STUDY; CORRELATION ANALYSIS; ETHNIC GROUP; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; KOREA; MAJOR CLINICAL STUDY; MALE; MISMATCH REPAIR; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SAMPLE SIZE; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE; BASE MISPAIRING; CASE CONTROL STUDY; COLORECTAL TUMOR; DNA REPAIR; ETHNOLOGY; GENE EXPRESSION PROFILING; GENETICS; MIDDLE AGED; PEDIGREE; POLYMERASE CHAIN REACTION;

CARRIER PROTEIN; MLH1 PROTEIN, HUMAN; NUCLEAR PROTEIN; TUMOR PROTEIN;

ADULT; BASE PAIR MISMATCH; CARRIER PROTEINS; CASE-CONTROL STUDIES; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR; FEMALE; GENE EXPRESSION PROFILING; GENOTYPE; HUMANS; KOREA; MALE; MIDDLE AGED; NEOPLASM PROTEINS; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 20844435637     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:FAME.0000039919.66461.8f     Document Type: Article

References (52)

1. Collins FS, Brooks LD, Chakravarti A. A DNA polymorphism discovery resource for research on human genetic variation. Genome Res 1998; 8: 1229-31.
2. Gray IC, Campbell DA, Spurr NK. Single nucleotide polymorphisms as tools in human genetics. Hum Mol Genet 2000; 9: 2403-8.
3. Houlston RS, Tomlinson IP. Polymorphisms and colorectal tumor risk. Gastroenterology 2001; 121: 282-301.
4. Houlston RS, Peto J. Genetics of common cancers. In Eeles RA, Ponder B, Easton DE, Horwich A (eds): Inherited Predisposition to Cancer. London: Chapman & Hall Medical 1996; 208-26.
5. Miller KM, Ming TJ, Schulze AD et al. Denaturing gradient gel electrophoresis (DGGE): a rapid and sensitive technique to screen nucleotide sequence variation in populations. Biotechniques 1999; 27: 1016-30.
6. Lindblad-Toh K, Winchester E, Daly MJ et al. Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse. Nat Genet 2000; 24: 381-6.
7. Böcker S. SNP and mutation discovery using base-specific cleavage and MALDI-TOF mass spectrometry. Bioinformatics 2003; 19 (S1): I44-53.
8. Mohrenweiser HW, Jones IM. Variation in DNA repair is a factor in cancer susceptibility: a paradigm for the promises and perils of individual and population risk estimation? Mutat Res 1998; 400: 15-24.
9. Knudson AG. Hereditary predisposition to cancer. Ann N Y Acad Sci 1997; 833: 58-67.
10. Liu B, Parsons R, Papadopoulos N et al. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med 1996; 2: 169-74.
11. Mitchell RJ, Farrington SM, Dunlop MG et al. Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review. Am J Epidemiol 2002; 156: 885-902.
12. Suh JH, Lim SD, Kim JC et al. Comparison of clinicopathologic characteristics and genetic alterations between microsatellite instability-positive and microsatellite instability-negative sporadic colorectal carcinomas in patients younger than 40 years old. Dis Colon Rectum 2002; 45: 219-28.
13. Liu B, Nicolaides NC, Markowitz S et al. Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet 1995; 9: 48-55.
14. Buerstedde JM, Alday P, Torhorst J et al. Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes. J Med Genet 1995; 32: 909-12.
15. 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: 6092-6.
16. Nystrom-Lahti M, Wu Y et al. DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet 1996; 5: 763-9.
17. Tomlinson IP, Beck NE, Homfray T et al. Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer. J Med Genet 1997; 34: 39-42.
18. Curia MC, Palmirotta R, Aceto G et al. Unbalanced germ-line expression of hMLH1 and hMSH2 alleles in hereditary nonpolyposis colorectal cancer. Cancer Res 1999; 59: 3570-5.
19. Kobayashi K, Matsushima M, Koi S et al. Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability. Jpn J Cancer Res 1996; 87: 141-5.
20. Wang Y, Friedl W, Lamberti C et al. A novel missense mutation in the DNA mismatch repair gene hMLH1 present among East Asians but not among Europeans. Hum Hered 1998; 48: 87-91.
21. Fujita M, Enomoto T, Yoshino K et al. Microsatellite instability and alterations in the hMSH2 gene in human ovarian cancer. Int J Cancer 1995; 64: 361-6.
22. Paz-y-Mino C, Perez JC, Fiallo BF et al. A polymorphism in the hMSH2 gene (gIVS12-6T > C) associated with non-Hodgkin lymphomas. Cancer Genet Cytogenet 2002; 133: 29-33.
23. Goessl C, Plaschke J, Pistorius S et al. An intronic germline transition in the HNPCC gene hMSH2 is associated with sporadic colorectal cancer. Eur J Cancer 1997; 33: 1869-74.
24. Brentnall TA, Rubin CE, Crispin DA et al. A germline substitution in the human MSH2 gene is associated with high-grade dysplasia and cancer in ulcerative colitis. Gastroenterology 1995; 109: 151-5.
25. Bubb VJ, Curtis LJ, Cunningliam C et al. Microsatellite instability and the role of KMSH2 in sporadic colorectalcancer. Oncogene 1996; 12: 2641-9.
26. Shen MR, Jones IM, Mohrenweiser H. Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res 1998; 58: 604-8.
27. Kwok PY, Gu Z. Single nucleotide polymorphism libraries: why and how are we building them? Mol Med Today 1999; 5: 538-43.
28. Tost J, Gut IG. Genotyping single nucleotide polymorphisms by mass spectrometry. Mass Spectrom Rev 2002; 21: 388-418.
29. Wang Y, Friedl W, Lamberti C et al. Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes. Int J Cancer 2003; 103: 636-41.
30. Heinimann K, Scott RJ, Buerstedde JM et al. Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. Cancer 1999; 85: 2512-8.
31. Sasaki S, Tokino T, Miyatsu T et al. Mutational analysis of the hMLH1 gene using an automated two-dimensional DNA typing system. Hum Mutat 1997; 9: 164-71.
32. Maliaka YK, Chudina AP, Belev NF et al. CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations. Hum Genet 1996; 97: 251-5.
33. Wijnen J, Vasen H, Khan PM et al. Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis. Am J Hum Genet 1995; 56: 1060-6.
34. Weber TK, Conlon W, Petrelli NJ et al. Genomic DNA-based hMSH2 and hMLH1 mutation screening in 32 Eastern United States hereditary nonpolyposis colorectal cancer pedigrees. Cancer Res 1997; 57: 3798-803.
35. Wang Q, Lasset C, Desseigne F et al. Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. Hum Genet 1999; 105: 79-85.
36. Wu Y, Nystrom-Lahti M, Osinga J et al. MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis. Genes Chromosomes Cancer 1997; 18: 269-78.
37. Samowitz WS, Curtin K, Lin HH et al. The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer. Gastroenterology 2001; 121: 830-8.
38. Kim JC, Kim HC, Roh SA et al. hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer. Cancer Detect Prev 2001; 25: 503-10.
39. Moslein G, Tester DJ, Lindor NM et al. Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. Hum Mol Genet 1996; 5: 1245-52.
40. Han HJ, Maruyama M, Baba S et al. Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC) Hum Mol Genet 1995; 4: 237-42.
41. Liu T, Tannergard P, Hackman P et al. Missense mutations in hMLH1 associated with colorectal cancer. Hum Genet 1999; 105: 437-41.
42. Weber TK, Chin HM, Rodriguez-Bigas M et al. Novel hMLH1 and hMSH2 germline mutations in African Americans with colorectal cancer. JAMA 1999; 281: 2316-20.
43. Orth K, Hung J, Gazdar A et al. Genetic instability in human ovarian cancer cell lines. Proc Natl Acad Sci USA 1994; 91: 9495-9.
44. Kolodner RD, Tytell JD, Schmeits JL et al. Germ-line msh6 mutations in colorectal cancer families. Cancer Res 1999; 59: 5068-74.
45. Plaschke J, Kruppa C, Tischler R et al. Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer. Int J Cancer 2000; 85: 606-13.
46. Wijnen J, de Leeuw W, Vasen H et al. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet 1999; 23: 142-4.
47. Marth G, Yeh R, Minton M et al. Single-nucleotide polymorphisms in the public domain: how useful are they? Nat Genet 2001; 27: 371-2.
48. Guerrette S, Acharya S, Fishel R. The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. J Biol Chem 1999; 274: 6336-41.
49. Hampe J, Wollstein A, Lu T et al. An integrated system for high throughput TaqMan based SNP genotyping. Bioinformatics 2001; 17: 654-5.
50. Ranade K, Chang MS, Ting CT et al. High-throughput genotyping with single nucleotide polymorphisms. Genome Res 2001; 11: 1262-8.
51. Chasman D, Adams RM. Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation. J Mol Biol 2001; 307: 683-706.
52. Vasen HF, Watson P, Mecklin JP et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999; 116: 1453-6.