Using germ-line genetic variation to investigate and treat cancer

Drug Discovery Today

Volumn 9, Issue 14, 2004, Pages 610-618

  Savage, Sharon A ^a   Chanock, Stephen J ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

Author keywords

cancer; Cancer biology; cancer therapy; Cell biology; Drug Discovery; genetic variation; genome; germ lines; Molecular Medicine; Pharmaceutical Science; toxicities

Indexed keywords

6 MERCAPTOPURINE DERIVATIVE; AZATHIOPRINE; GEFITINIB; IRINOTECAN; MERCAPTOPURINE; TIOGUANINE;

ACUTE LYMPHOBLASTIC LEUKEMIA; ALLELE; BLOOD TOXICITY; CANCER RECURRENCE; CANCER RESEARCH; CANCER RISK; CANCER THERAPY; COLORECTAL CANCER; DIARRHEA; DRUG EFFICACY; DRUG METABOLISM; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GERM LINE; HAPLOTYPE; HUMAN; HUMAN GENOME; LUNG NON SMALL CELL CANCER; MICROSATELLITE MARKER; MOLECULAR DYNAMICS; MOLECULAR INTERACTION; NEUTROPENIA; PHENOTYPE; PREDICTION; PROGNOSIS; REVIEW; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION;

ANTINEOPLASTIC AGENTS; FEMALE; GENOME, HUMAN; HUMANS; MALE; MICROSATELLITE REPEATS; NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 3142544676     PISSN: 13596446     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1359-6446(04)03179-4     Document Type: Review

References (80)

1. Fitzgerald M.G., et al. Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N. Engl. J. Med. 334:1996;143-149
2. Marcus P.M., et al. Cigarette smoking, N-acetyltransferase 2 acetylation status, and bladder cancer risk: a case-series meta-analysis of a gene-enviroment interaction. Cancer Epidemiol. Biomarkers Prev. 9:2000;461-467
3. Vineis P., et al. Current smoking, occupation, N-acetyltransferase-2 and bladder cancer: a pooled analysis of genotype-based studies. Cancer Epidemiol. Biomarkers Prev. 10:2001;1249-1252
4. Børresen-Dale A.L. TP53 and breast cancer. Hum. Mutat. 21:2003;292-300
5. Rothman N., et al. The use of common genetic polymorphisms to enhance the epidemiologic study of environmental carcinogens. Biochim. Biophys. Acta. 1471:2001;C1-C10
6. Shavers V.L., Brown M.L. Racial and ethnic disparities in the receipt of cancer treatment. J. Natl. Cancer Inst. 94:2002;334-357
7. Fraumeni J.F. Jr, Glass A.G. Rarity of Ewing's sarcoma among U.S. Negro children. Lancet. 1:1970;366-367
8. Watters J.W., McLeod H.L. Cancer pharmacogenomics: current and future applications. Biochim. Biophys. Acta. 1603:2003;99-111
9. Roses A.D. Genome-based pharmacogenetics and the pharmaceutical industry. Nat. Rev. Drug Discov. 1:2002;541-549
10. Collins F.S., et al. A vision for the future of genomics research. Nature. 422:2003;835-847
11. Lander E.S., et al. Initial sequencing and analysis of the human genome. Nature. 409:2001;860-921
12. Venter J.C., et al. The sequence of the human genome. Science. 291:2001;1304-1351
13. Botstein D., Risch N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat. Genet. 33:(Suppl):2003;228-237
14. Friend S.H., et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature. 323:1986;643-646
15. Malkin D., et al. Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. N. Engl. J. Med. 326:1992;1309-1315
16. Frebourg T., et al. Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein. Proc. Natl. Acad. Sci. U. S. A. 89:1992;6413-6417
17. Kruglyak L. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat. Genet. 22:1999;139-144
18. Carlson C.S., et al. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am. J. Hum. Genet. 74:2004;106-120
19. Marth G., et al. Sequence variations in the public human genome data reflect a bottlenecked population history. Proc. Natl. Acad. Sci. U. S. A. 100:2003;376-381
20. Tishkoff S.A., Verrelli B.C. Patterns of human genetic diversity: Implications for human evolutionary history and disease. Annu. Rev. Genomics Hum. Genet. 4:2003;293-340
21. Chanock S. Candidate genes and single nucleotide polymorphisms (SNPs) in the study of human disease. Dis. Markers. 17:2001;89-98
22. Risch N. Searching for genetic determinants in the new millenium. Nature. 405:1999;847-856
23. Duan J., et al. Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum. Mol. Genet. 12:2003;205-216
24. Packer B., et al. SNP500cancer: a public resource for sequence validation and assay development for genetic variation in candidate genes. Nucleic Acids Res. 32:2004;D528-D532
25. Cambien F., et al. Sequence diversity in 36 candidate genes for cardiovascular disease. Am. J. Hum. Genet. 65:1999;183-191
26. Reich D.E., et al. Quality and completeness of SNP databases. Nat. Genet. 33:2003;457-458
27. Daly M.J., et al. High-resolution haplotype structure in the human genome. Nat. Genet. 29:2001;229-232
28. Gabriel S.B., et al. The structure of haplotype blocks in the human genome. Science. 296:2002;2225-2229
29. Stephens J.C., et al. Haplotype variation and linkage disequilibrium in 313 human genes. Science. 293:2001;489-493
30. Stephens M., et al. A new statistical method for haplotype reconstruction from population data. Am. J. Hum. Genet. 68:2001;978-989
31. Excoffier L., Slatkin M. Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol. Biol. Evol. 12:1995;921-927
32. Fallin D., et al. Genetic analysis of case/control data using estimated haplotype frequencies: application to APOE locus variation and Alzheimer's disease. Genome Res. 11:2001;143-151
33. Thompson D., et al. Haplotype tagging single nucleotide polymorphisms and association studies. Hum. Hered. 56:2003;48-55
34. Stram D.O., et al. Modeling and E-M estimation of haplotype-specific relative risk from genotype data for a case-control study of unrelated individuals. Hum. Hered. 55:2003;179-190
35. Chapman J.M., et al. Detecting disease associations due to linkage disequilibrium using haplotype tags: a class of tests and the determinants of statistical power. Hum. Hered. 56:2003;18-31
36. The International HapMap Consortium. The international HapMap project. Nature. 426:2003;789-796
37. Taylor A., et al. Using genetic variation to study human disease. Trends Mol. Med. 7:2001;507-512
38. Collins A., et al. Genetic epidemiology of single-nucleotide polymorphisms. Proc. Natl. Acad. Sci. U. S. A. 96:1999;15173-15177
39. Hall J.M., et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 250:1990;1684-1689
40. Le Marchand L., et al. Association of the myeloperoxidase -463G→a polymorphism with lung cancer risk. Cancer Epidemiol. Biomarkers Prev. 9:2000;181-184
41. London S.J., et al. Myeloperoxidase genetic polymorphism and lung cancer risk. Cancer Res. 57:1997;5001-5003
42. Golka K., et al. The enhanced bladder cancer susceptibility of NAT2 slow acetylators towards aromatic amines: a review considering ethnic differences. Toxicol. Lett. 128:2002;229-241
43. Hein D.W. Molecular genetics and function of NAT1 and NAT2: role in aromatic amine metabolism and carcinogenesis. Mutat. Res. 2002;65-77. 506-507
44. Marcus P.M., et al. NAT2 slow acetylation and bladder cancer risk: a meta-analysis of 22 case-control studies conducted in the general population. Pharmacogenetics. 10:2000;115-122
45. Hopper J.L. Genetic epidemiology of female breast cancer. Semin. Cancer Biol. 11:2001;367-374
46. Carlson C.S., et al. Additional SNPs and linkage disequilibrium analyses are necessary for whole-genome asssociations tudies in humans. Nat. Genet. 33:2003;518-521
47. Krynetski E.Y., et al. Genetic polymorphism of thiopurine S-methyltransferase: clinical importance and molecular mechanisms. Pharmacogenetics. 6:1996;279-290
48. Krynetski E.Y., et al. A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase. Proc. Natl. Acad. Sci. U. S. A. 92:1995;949-953
49. McLeod H.L., et al. Genetic polymorphism of thiopurine methyltransferase and its clinical relevance for childhood acute lymphoblastic leukemia. Leukemia. 14:2000;567-572
50. McLeod H.L., et al. Polymorphic thiopurine methyltransferase in erythrocytes is indicative of activity in leukemic blasts from children with acute lymphoblastic leukemia. Blood. 85:1995;1897-1902
51. McLeod H.L., et al. Genetic polymorphism of thiopurine methyltransferase and its clinical relevance for childhood acute lymphoblastic leukemia. Leukemia. 14:2000;567-572
52. Evans W.E., et al. Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine. J. Clin. Oncol. 19:2001;2293-2301
53. Relling M.V., et al. Prognostic importance of 6-mercaptopurine dose intensity in acute lymphoblastic leukemia. Blood. 93:1999;2817-2823
54. Hon Y.Y., et al. Polymorphism of the thiopurine S-methyltransferase gene in African-Americans. Hum. Mol. Genet. 8:1999;371-376
55. Schmiegelow K., et al. Intensification of mercaptopurine/methotrexate maintenance chemotherapy may increase the risk of relapse for some children with acute lymphoblastic leukemia. J. Clin. Oncol. 21:2003;1332-1339
56. Gupta E., et al. fate of irinotecan in humans: correlation of glucuronidation with diarrhea. Cancer Res. 54:1994;3723-3725
57. Innocenti F., Ratain M.J. Irinotecan treatment in cancer patients with UGT1A1 polymorphisms. Oncology (Huntingt.). 17:(Suppl 5):2003;52-55
58. Iyer L., et al. Genetic predisposition to the metabolism of irinotecan (CPT-11). Role of uridine diphosphate glucuronosyltransferase isoform 1A1 in the glucuronidation of its active metabolite (SN-38) in human liver microsomes. J. Clin. Invest. 101:1998;847-854
59. Paez J.G., et al. EGFR mutations in lung cancer: correlation with clinical response to Gefitinib therapy. Science. 304:2004;1497-1500
60. Lynch T.J., et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N. Engl. J. Med. 350:2004;2129-2139
61. Strausberg R.L., et al. Sequence-based cancer genomics: progress, lessons and opportunities. Nat. Rev. Genet. 4:2003;409-418
62. Iqbal S., Lenz H.J. Targeted therapy and pharmacogenomic programs. Cancer. 97:(Suppl. 8):2003;2076-2082
63. Lohmueller K.E., et al. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat. Genet. 33:2003;177-182
64. Chanock S.J., Wacholder S. One gene and one outcome? No way. Trends Mol. Med. 8:2002;266-269
65. No author. Freely associating. Nat. Genet. 22:1999;1-2
66. Colhoun H.M., et al. Problems of reporting genetic associations with complex outcomes. Lancet. 361:2003;865-872
67. Hirschhorn J.N., et al. A comprehensive review of genetic association studies. Genet. Med. 4:2002;45-61
68. Ioannidis J.P., et al. Replication validity of genetic association studies. Nat. Genet. 29:2001;306-309
69. Wacholder S., et al. Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. J. Natl. Cancer Inst. 96:2004;434-442
70. Wacholder S., et al. Population stratification in epidemiologic studies of common genetic variants and cacner:quantification of bias. J. Natl. Cancer Inst. 92:2000;1151-1158
71. Marchini J., et al. The effects of human population structure on large genetic association studies. Nat. Genet. 36:2004;512-517
72. Freedman M.L., et al. Assessing the impact of population stratification on genetic association studies. Nat. Genet. 36:2004;388-393
73. Goldstein J.A. Clinical relevance of genetic polymorphisms in the human CYP2C subfamily. Br. J. Clin. Pharmacol. 52:2001;349-355
74. El Omar E.M., et al. Interleukin-1 polymorphisms associated with increased risk of gastric cancer. Nature. 404:2000;398-402
75. El Omar E.M., et al. Increased risk of noncardia gastric cancer associated with proinflammatory cytokine gene polymorphisms. Gastroenterology. 124:2003;1193-1201
76. Stanczuk G.A., et al. Cancer of the uterine cervix may be significantly associated with a gene polymorphism coding for increased IL-10 production. Int. J. Cancer. 94:2001;792-794
77. Cavet J., et al. Recipient tumor necrosis factor-alpha and interleukin-10 gene polymorphisms associate with early mortality and acute graft-versus-host disease severity in HLA-matched sibling bone marrow transplants. Blood. 94:1999;3941-3946
78. Kuschel B., et al. Variants in DNA double-strand break repair genes and breast cancer susceptibility. Hum. Mol. Genet. 11:2002;1399-1407
79. Diasio R.B., et al. Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity. J. Clin. Invest. 81:1988;47-51
80. Lu Z., et al. Dihydropyrimidine dehydrogenase activity in human peripheral blood mononuclear cells and liver: population characteristics, newly identified deficient patients, and clinical implication in 5-fluorouracil chemotherapy. Cancer Res. 53:1993;5433-5438