Biological bases for individualising prescriptions in oncology: The germline genome;Bases biologiques de l'individualisation des prescriptions en oncologie: Le génome constitutionnel

Bulletin du Cancer

Volumn 95, Issue 10, 2008, Pages 911-921

  Robert, Jacques ^a   Le Morvan, Valérie ^a  

^a INSTITUT BERGONIÉ   (France)

Author keywords

Anticancer drug metabolism; Chemotherapy; Gene polymorphisms; Prediction of response; Toxicity

Indexed keywords

ANTINEOPLASTIC AGENT; CYCLOPHOSPHAMIDE; CYTOCHROME P450; DIHYDROPYRIMIDINE DEHYDROGENASE; FLUOROURACIL; GLUCURONOSYLTRANSFERASE 1A1; GLUTATHIONE TRANSFERASE; GLYCOPROTEIN P; IRINOTECAN; MULTIDRUG RESISTANCE PROTEIN 1; OXALIPLATIN; PROTEIN P53; THIOPURINE METHYLTRANSFERASE; THYMIDYLATE SYNTHASE; VINCA ALKALOID; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

DNA POLYMORPHISM; DRUG METABOLISM; GENE CONTROL; GENE EXPRESSION; GENE IDENTIFICATION; GENE REPLICATION; GENE SEQUENCE; GENE STRUCTURE; GERM LINE GENE THERAPY; POLYMERASE CHAIN REACTION; PRESCRIPTION; REVIEW; SHORT TANDEM REPEAT;

ANTINEOPLASTIC AGENTS; DNA TRANSPOSABLE ELEMENTS; GENE EXPRESSION REGULATION; GENE REARRANGEMENT; GENOME, HUMAN; HUMANS; POINT MUTATION; POLYMORPHISM, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 56149099976     PISSN: 00074551     EISSN: 17696917     Source Type: Journal    
DOI: 10.1684/bdc.2008.0722     Document Type: Review

References (48)

1. e édition. Paris : Masson, 2006 ; (294 p).
2. Brown TA. Génomes. Paris : Flammarion-Médecine- Sciences, 2004.
3. Syvanen AC. Accessing genetic variation : genotyping single nucleotide polymorphisms. Nat Rev Genet 2001 ; 2 : 930-42.
4. Kwok PY. Methods for genotyping single nucleotide polymorphisms. Annu Rev Genomics Hum Genet 2001 ; 2 : 235-58.
5. Shi MM. Enabling large-scale pharmacogenetic studies by high-throughput mutation detection and genotyping technologies. Clin Chem 2001 ; 47 : 164-72.
6. Shi MM, Bleavins MR, de la Iglesia FA. Technologies for detecting genetic polymorphisms in pharmacogenomics. Mol Diagn 1999 ; 4 : 343-51.
7. Till BJ, Burtner C, Comai L, Henikoff S. Mismatch cleavage by single-strand specific nucleases. Nucleic Acids Res 2004 ; 32 : 2632-41.
8. Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989 ; 5 : 874-9.
9. Behrensdorf HA, Pignot M, Windhab N, Kappel A. Rapid parallel mutation scanning of gene fragments using a microelectronic protein-DNA chip format. Nucleic Acids Res 2002 ; 30 : e64.
10. Robert J, Le Morvan V, Smith D, Pourquier P, Bonnet J. Predicting drug response and toxicity based on gene polymorphisms. Crit Rev Oncol Hematol 2005 ; 54 : 171-96.
11. McLeod HL, Evans WE. Pharmacogenomics : unlocking the human genome for better drug therapy. Annu Rev Pharmacol Toxicol 2001 ; 41 : 101-21.
12. Boddy AV, Ratain MJ. Pharmacogenetics in cancer etiology and chemotherapy. Clin Cancer Res 1997 ; 3 : 1025-30.
13. Loni L, Del Tacca M, Danesi R. Pharmacogenetics of anticancer drugs in non-Hodgkin lymphomas. Br J Cancer 2001 ; 85 : 1425-31.
14. Ensom MH, Chang TK, Patel P. Pharmacogenetics : the therapeutic drug monitoring of the future? Clin Pharmacokinet 2001 ; 40 : 783-802.
15. Sekine I, Saijo N. Polymorphisms of metabolizing enzymes and transporter proteins involved in the clearance of anticancer agents. Ann Oncol 2001 ; 12 : 1515-25.
16. Robert J. What is a targeted therapy? The view of the biologist. Bull Cancer 2007 ; 94 : F101-F110.
17. McLeod HL, Krynetski EY, Relling MV, Evans WE. Genetic polymorphism of thiopurine methyltransferase and its clinical relevance for childhood acute lymphoblastic leukemia. Leukemia 2000 ; 14 : 567-72.
18. Van Kuilenburg AB, Meinsma R, Zoetekouw L, Van Gennip AH. High prevalence of the IVS14+1G>A mutation in the dihydropyrimidinedehydrogenase gene of patients with severe 5-fluoro-uracil-associated toxicity. Pharmacogenetics 2002 ; 12 : 555-8.
19. Horie N, Aiba H, Oguro K, Hojo H, Takeishi K. Functional analysis and DNA polymorphism of the tandemly repeated sequences in the 5′-terminal regulatory region of the human gene for thymidylate synthase. Cell Struct Funct 1995 ; 20 : 191-7.
20. Pullarkat ST, Stoehlmacher J, Ghaderi V, Xiong YP, Ingles SA, Sherrod A, et al. Thymidylate synthase gene polymorphism determines response and toxicity of 5-FU chemotherapy. Pharmacogenomics J 2001 ; 1 : 65-70.
21. Kawakami K, Watanabe G. Identification and functional analysis of single nucleotide polymorphism in the tandem repeat sequence of thymidylate synthase gene. Cancer Res 2003 ; 63 : 6004-7.
22. Ulrich CM, Bigler J, Velicer CM, Greene EA, Farin FM, Potter JD. Searching expressed sequence tag databases : discovery and confirmation of a common polymorphism in the thymidylate synthase gene. Cancer Epidemiol Biomarkers Prev 2000 ; 9 : 1381-5.
23. Iyer L, Das S, Janisch L, Wen M, Ramirez J, Karrison T, et al. UGT1A1*28 polymorphism as a determinant of irinotecan disposition and toxicity. Pharmacogenomics J 2002 ; 2 : 43-7.
24. Stoehlmacher J, Park DJ, Zhang W, Groshen S, Tsao-Wie DD, Yu MC, et al. Association between glutathione S-transferase P1, T1 and M1 genetic polymorphism and survival of patients with metastatic colorectal cancer. J Natl Cancer Inst 2002 ; 94 : 936-42.
25. Park DJ, Stoehlmacher J, Zhang W, Tsao-Wei DD, Groshen S, Lenz HJ. A xeroderma pigmentosum group D gene polymorphism predicts clinical outcome to platinum-based chemotherapy in patients with advanced colorectal cancer. Cancer Res 2001 ; 61 : 8654-8.
26. Le Morvan V, Smith D, Laurand A, Brauste V, Bellott R, Soubeyran I, et al. Determination of ERCC2 Lys751Gln and GSTP1 Ile105Val gene polymorphisms in colorectal cancer patients : relationships with treatment outcome. Pharmacogenomics 2007 ; 8 : 1693-703.
27. Viguier J, Boige V, Miquel C, Pocard M, Giraudeau B, Sabourin JC, et al. ERCC1 codon 118 polymorphism is a predictive factor for the tumor response to oxaliplatin/5-fluoro-uracil combination chemotherapy in patients with advanced colorectal cancer. Clin Cancer Res 2005 ; 11 : 6212-7.
28. Ruzzo A, Graziano F, Loupakis F, Rulli E, Canestrari E, Santini D, et al. Pharmacogenetic profiling in patients with advanced colorectal cancer treated with first-line FOLFOX-4 chemotherapy. J Clin Oncol 2007 ; 25 : 1247-54.
29. Smith S, Su D, Rigault de la Longrais IA, Schwartz P, Puopolo M, Rutherford TJ, et al. ERCC1 genotype and phenotype in epithelial ovarian cancer identify patients likely to benefic from paclitaxel treatment in addition to platinum-based therapy. J Clin Oncol 2007 ; 25 : 5172-9.
30. Ryu JS, Hong YC, Han HS, Lee JE, Kim S, Park YM, et al. Association between polymorphisms of ERCC1 and XPD and survival in non-small-cell lung cancer patients treated with cisplatin combination chemotherapy. Lung Cancer 2004 ; 44 : 311-6.
31. Olaussen KA, Dunant A, Fouret P, Brambilla E, André F, Haddad V, et al. DNA repair by ERCC1 in non-small-cell lung cancer and cisplatin-based adjuvant chemotherapy. N Engl J Med 2006 ; 355 : 983-91.
32. Stoehlmacher J, Ghaderi V, Iobal S, Groshen S, Tsao-Wei D, Park D, et al. A polymorphism of the XRCC1 gene predicts for response to platinum based treatment in advanced colorectal cancer. Anticancer Res 2001 ; 21 : 3075-9.
33. Dumont P, Leu JI, Delia Pietra 3rd AC, George DL, Murphy M. The codon 72 polymorphic variants of p53 have markedly different apoptotic potential. Nat Genet 2003 ; 33 : 357-65.
34. Sullivan A, Syed N, Gasco M, Bergamaschi D, Trigiante G, Attard M, et al. Polymorphism in wild-type p53 modulates response to chemotherapy in vitro and in vivo. Oncogene 2004 ; 23 : 3328-37.
35. Bergamaschi D, Gasco M, Hiller L, Sullivan A, Syed N, Trigiante G, et al. p53 polymorphism influences response in cancer chemotherapy via modulation of p73-dependent apoptosis. Cancer Cell 2003 ; 3 : 387-402.
36. Wegman P, Stal O, Askmalm MS, Nordenskjold B, Rutqvist LE, Wingren S. p53 polymorphic variants at codon 72 and the outcome of therapy in randomized breast cancer patients. Pharmacogenet Genomics 2006 ; 16 : 347-51.
37. Bond GL, Hu W, Bond EE, Robins H, Lutzker SG, Arva NC, et al. A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerares tumor formation in humans. Cell 2004 ; 119 : 591-602.
38. Hoffmeyer S, Burk O, von Richter O, Arnold HP, Brockmoller J, Johne A, et al. Functional polymorphisms of the human multidrug-resistance gene : multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo. Proc Natl Acad Sci USA 2000 ; 97 : 3473-8.
39. Kimchi-Sarfaty C, Oh JM, Kim IW, Sauna ZE, Calcagno AM, Ambudkar SV, et al. A «silent» polymorphism in the MDR1 gene changes substrate specificity. Science 2007 ; 315 : 525-8.
40. Marzolini C, Paus E, Buclin T, Kim RB. Polymorphisms in human MDR1 (P-glycoprotein) : recent advances and clinical relevance. Clin Pharmacol Ther 2004 ; 75 : 13-33.
41. Stearns V, Johnson MD, Rae JM, Morocho A, Novielli A, Bhargava P, et al. Active tamoxifen metabolite plasma concentrations after coadministration of tamoxifen and the selective serotonin reuptake inhibitor paroxetine. J Natl Cancer Inst 2003 ; 95 : 1758-64.
42. Goetz MP, Rae JM, Suman VJ, Safgren SL, Ames MM, Visscher DW, et al. Pharmacogenetics of tamoxifen biotransformation is associated with clinical outcomes of efficacy and hot flashes. J Clin Oncol 2005 ; 23 : 9312-8.
43. Borges S, Desta Z, Li L, Skaar TC, Ward BA, Nguyen A, et al. Quantitative effect of CYP2D6 genotype and inhibitors on tamoxifen metabolism : implication for optimization of breast cancer treatment. Clin Pharmacol Ther 2006 ; 80 : 61-74.
44. Schroth W, Antoniadou L, Fritz P, Schwab M, Muerdter T, Zanger UM, et al. Breast cancer treatment outcome with adjuvant tamoxifen relative to patient CYP2D6 and CYP2C19 genotypes. J Clin Oncol 2007 ; 25 : 5187-93.
45. Ducreux M, Laurent-Puig P. Individualisation des prescriptions dans le cancer colorectal. Le point de vue du clinicien. Bull Cancer 2008 ; 95(10) : 935-42.
46. Penel N, Saleron J, Lansiaux A, Clisant S, Adenis A, Fournier C, et al. Methodological approaches of clinical studies with targeted therapies. Bull Cancer 2008 ; 95(2) : 185-90.
47. Petain A, Chatelut E. Pourquoi individualiser les doses de médicaments anticancéreux : de la surface corporelle à la physiologie. Bull Cancer 2008 ; 95(10) : 895-901.
48. Rosell R, Cuello M, Cecere F, Santarpia M, Reguart N, Felip E, et al. Usefulness of predictive tests for cancer treatmenr. Bull Cancer 2006 ; 93 : E101-E108.