The human genome project and the discovery of genetic determinants of cancer susceptibility

European Journal of Cancer

Volumn 40, Issue 17 SPEC. ISS., 2004, Pages 2537-2543

  Taramelli, R ^a   Acquati, F ^a  

^a UNIVERSITY OF INSUBRIA   (Italy)

Author keywords

Association; Cancer; Complex diseases; Gene; Gene interaction; Linkage disequilibrium; Mouse; QTL; SNPs; Susceptibility

Indexed keywords

DNA;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ALLELE; CANCER GENETICS; CANCER RISK; CANCER SUSCEPTIBILITY; CHROMOSOME ANALYSIS; DISEASE ASSOCIATION; DNA SEQUENCE; EXPERIMENT; FRAMESHIFT MUTATION; GENE ACTIVITY; GENE EXPRESSION; GENE FUNCTION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME ANALYSIS; HEALTH; HUMAN; HUMAN GENOME; MALIGNANT NEOPLASTIC DISEASE; METHODOLOGY; MOLECULAR BIOLOGY; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STRUCTURE ANALYSIS;

EID: 8444247485     PISSN: 09598049     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejca.2004.07.030     Document Type: Article

References (68)

1. King RA, Rotter JI, Motulsky AG. The genetic basis of common diseases. In Motulsky AG, Harper FS, Scriver C, Bobrow M. eds. vol. 20. Oxford University Press, 1992
2. N. Risch, and K. Merikangas The future of genetic studies of complex human diseases Science 1996 1516 1517
3. N. Risch Searching for genetic determinants in the new millennium Nature 404 2000 847 856
4. E. Lander, and N.J. Schork Genetic dissection of complex traits Science 265 1994 2037 2048
5. K.M. Weiss Perspective: in search of human variation Genome res 1998
6. R. Sachidanandam A map of human sequence variation containing 1.42 millions single nucleotide polymorphisms Nature 409 2001 928 933
7. A. Chakravarti It's raining SNPs, hallelujah Nat Genet 19 1999 216 217
8. A. Balmain, J. Gray, and B. Ponder The genetics and genomics of cancer Nat Genet 33 2003 238 244
9. N. Rothman, S. Wacholder, N. Caporaso, Garcia-Closas, K. Beutow, and J.R. Fraumeni The use of common genetic polymorphisms to enhance the epidemiologic study of environmental carcinogens Biochim Biophys Acta 1471 2001 C1 C10
10. N. Caporaso, and A. Golstein Cancer genes: single and susceptibility: expressing the difference Pharmacogenetics 5 1995 59 63
11. L. Kruglyak, and D. Nickerson Variation is the spice of life Nat Genet 23 2001 234 236
12. C.S. Carlson, M.A. Eberle, M.J. Rieder, J.D. Smith, L. Kruglyak, and D.A. Nickerson Nat Genet 33 2003 518 521
13. J.D. Wall, and K. Pritchard Haplotype blocks and linkage disequilibrium in the human genome Nat Rev Genet 4 2003 587 597
14. T. Webb SNPs: can genetic variants control cancer susceptibility? J Natl Cancer Inst 94 2002 476 479
15. R.L. Strauberg, A.J. Simpson, and R. Wooster Sequence-based cancer genomics: progress, lessons and opportunities Nat Rev Genet 4 2003 408 418
16. J.N. Hirschhorn, K. Lohmueller, and K. Hirschhorn A comprehensive review of genetic association studies Genet Med 4 2002 45 61
17. M. Garcia-Closas, N. Rothman, and J. Lubin Misclassification in case control studies of gene-environment interactions: assessment of bias and sample size Cancer Epidemiol Biomark Prev 8 1999 1043 1050
18. S. Wacholder, N. Rothman, and N. Caporaso Counterpoint: bias from population stratification is not a major threat to the validity of conclusions from epidemiological studies of common polymorphisms and cancer Cancer Epidemiol Biomark Prev 11 2002 513 520
19. J.R. Thompson Invited commentary: re: multiple comparisons and related issues in the interpretation of epidemiological data Am J Epidemiol 147 1998 801 806
20. J. Little, L. Bradley, and M.S. Bray Reporting, appraising, and integrating data on genotype prevalence and gene-disease associations Am J Epidemiol 156 2002 300 310
21. S. Wacholder, J. McLaughlin, D. Silverman, and J.S. Mandel Selection of controls in case-control Studies! Principles Am J Epidemiol 135 1992 1019 1049
22. F.S. Collins, M.S. Guyer, and A. Chakravarti Variations on a theme: cataloging human DNA sequence variation Science 278 1997 1580 1581
23. D. Botstein, and N. Risch Discovering genotypes underlying human phenotypes: past success for mendelian diseases, future approaches for complex diseases Nature Genet 33 2003 228 237
24. D.E. Reich, and E.S. Lander On the allelic spectrum of human disease Trends Genet 17 2001 502 509
25. The International HapMap Consortium. The international HapMap project. Nature 2003, 426, 789-796
26. K.M. Weiss, and J.D. Terwilliger How many diseases does it take to map a gene with SNPs Nat Genet 26 2000 151 157
27. J.K. Pritchard Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 69 2001 124 137
28. J.K. Pritchard, and N. Cox The allelic architecture of human disease genes: common disease-common variant o not? Hum Mol Genet 11 2002 2417 2423
29. J.D. Terwilliger, and K.M. Weiss Linkage disequilibrium mapping of complex disease: fantasy or reality? Curr Opin Biotechnol 9 1998 578 594
30. J.D. Terwilliger, F. Haghighi, T.S. Hiekkalinna, and H.H. Goring A bias-ed assessment of the use of SNPs in human complex traits Curr Opin Genet Dev 12 2002 726 734
31. Wright AF, Hastie N. Complex genetic diseases: controversy over the Croesus code Genome Biology
32. A.G. Clark Finding genes underlying risk of complex diseases by linkage disequilibrium mapping Curr Opin Genet Devel 13 2003 296 302
33. K.M. Weiss, and A.G. Clark Linkage disequilibrium and the mapping of complex human traits Trends Genet 18 2002 19 26
34. N.E. Morton Significance levels in complex diseases Am J Hum Genet 62 1998 690 697
35. A.F. Wright, B. Charlesworth, I. Rudan, A. Carothers, and H. Campbell A polygenic basis for late-onset disease Trends Genet 19 2003 97 106
36. J.L. Badano, and N. Katsanis Beyond Mendelian evolving view of human genetic disease transmission Nat Rev Genet 3 2002 779 789
37. K.M. Dipple, and R.B. McCabe Phenotypes of patients with simple mendelian disorders are complex traits: thresholds, modifiers and systemic dynamics Am J Hum Genet 66 2000 1729 1735
38. C.R. Scrivers, and P.J. Waters Monogenic traits are not simple Trends Genet 15 1999 267 272
39. E. Pennisi A closer look at SNPs suggests difficulties Science 281 1998 1787 1789
40. J. Couzin New mapping project splits the community Science 296 2002 1391 1392
41. J.D. Terwilliger, and H.H. Goring Gene mapping in the 20th and 21st centuries: statistical methods, data analysis, and experimental design Hum Biol 72 2000 63 132
42. J.D. Terwilliger, S. Zollner, M. Laan, and S. Paabo Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'drift mapping' in small populations with no demographic expansion Hum Hered 48 1998 138 154
43. A.F. Wright, A.D. Carothers, and M. Pirastu Population choice in mapping genes for complex diseases Nat Genet 23 1999 397 404
44. A.F. Wright, A.D. Carothers, and H. Campbell Gene-environment interactions - the bioBank UK study Pharmacogenom J 2 2002 75 82
45. A. Balmain, and C.C. Harris Carcinogenesis in mouse and human cells: parallels and paradoxes Carcinogenesis 21 2000 371 377
46. A. Balmain Cancer as a complex genetic trait: tumor susceptibility in humans and mouse models Cell 108 2002 145 152
47. J.P. de Koning, J.H. Mao, and A. Balmain Novel approaches to identify low-penetrance cancer susceptibility genes using mouse models Recent Results Cancer Res 163 2003 19 27
48. J.H. Mao, and A. Balmain Genomic approaches to identification of tumor-susceptibility genes using mouse models Curr Opin Genet Dev 13 2003 14 19
49. P. Demant Cancer susceptibility in the mouse: genetics, biology and implications for human cancer Nat Rev Genet 4 2003 721 734
50. J. Flint, and R. Mott Finding molecular basis of quantitative traits: successes and pitfalls Nat Rev Genet 2 2001 437 445
51. N.H. Barton, and P.D. Keightley Understanding quantitative genetic variation Nat Rev Genet 3 2002 11 17
52. T. Dragani 10 years of mouse cancer modifier loci: human relevance Cancer Res 63 2003 3011 3018
53. B. Hann, and A. Balmain Building 'validated' mouse models of human cancer Curr Opin Cell Biol 13 2001 778 784
54. T. Van Dyke, and J. Tyler Cancer modeling in the modern era: progress and challenges Cell 108 2002 135 144
55. D.A. Tuveson, and J. Tyler Technologically advanced cancer modeling in mice Curr Opin Genet Dev 12 2002 105 110
56. R. Meuwissen, J. Jonker, and A. Berns Mouse models of sporadic cancer Exp Cell Res 264 2001 100 110
57. M. MacPhee, K.P. Chepenik, R.A. Liddell, K.K. Nelson, L.D. Siracusa, and A.M. Buchberg The secretory phospholipase A2 gene is a candidate for the Mom1 locus, a major modifier of ApcMin-induced intestinal neoplasia Cell 81 1995 957 966
58. R.T. Cormier, K.H. Hong, and R.B. Halberg Secretory phospholipase Pla2g2a confers resistance to intestinal tumorigenesis Nat Genet 17 1997 88 91
59. R.T. Cormier, A. Bilger, A.J. Lillich, R.B. Halberg, K.H. Hong, and K.A. Gould The Mom1AKR intestinal tumor resistance region consists of Pla2g2a and a locus distal to D4Mit64 Oncogene 19 2000 3182 3192
60. J.P. Tomlinson, N.E. Becknd, K. Neale, and W.F. Bodmer Variants at the secretory phospholipase A2 locus: analysis of association with familial adenomatous polyposis and sporadic colorectal tumors Am J Hum Genet 60 1996 369 376
61. G. Manenti, B. Peissel, and M. Gariboldi A cancer modifier role for parathyroid hormone-related protein Oncogene 19 2000 5324 5328
62. M. Potter, E.B. Mashinsky, J.S. Wax, J. Hartley, and B.A. Mock Identification of two genes on chromosome 4 that determine resistance to plasmocytoma induction in mice Cancer Res 54 1994 969 975
63. Z. Zhang, Y. Wang, C.R. Herzog, G. Liu, H.W. Lee, and R.A. DePinho A strong candidate gene for the Papg1 locus on mouse chromosome 4 affecting lung tumor progression Oncogene 21 2002 5960 5966
64. H.T. Lynch, R.E. Brand, and D. Hogg Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome Cancer 94 1 2002 84 96
65. A. Borg, T. Sandberg, and K. Nilsson High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families J Natl Cancer Inst 92 15 2000 1260 1266
66. B.A. Mock, M.M. Krall, and J.K. Dosik Genetic mapping of tumor susceptibility genes in mouse plasmacytomagenesis Proc Natl Acad Sci USA 90 1993 9499 9503
67. C.J. Moen, P.C. Groot, A.A. Hart, M. Snoek, and P. Demant Fine mapping of colon tumor susceptibility (Scc) genes in the mouse, different from the genes known to be somatically mutated in colon cancer Proc Natl Acad Sci USA 93 1996 1082 1086
68. C.A. Ruivenkamp, T. van Wezel, and C. Zanon Ptprj is a candidate for the mouse colon-cancer susceptibility locus Scc1 and is frequently deleted in human cancers Nat Genet 4 2002 295 300