Pharmacogenetic study in rectal cancer patients treated with preoperative chemoradiotherapy: Polymorphisms in thymidylate synthase, epidermal growth factor receptor, GSTP1, and DNA repair genes

International Journal of Radiation Oncology Biology Physics

Volumn 81, Issue 5, 2011, Pages 1319-1327

  Páez, David ^a   Salazar, Juliana ^a,b   Paré, Laia ^a,b   Pertriz, Lourdes ^a   Targarona, Eduardo ^a   Del Rio, Elisabeth ^a,b   Barnadas, Agusti ^a   Marcuello, Eugenio ^a   Baiget, Montserrat ^a,b  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

5 Fluorouracil; Chemoradiotherapy; Pharmacogenetics; Polymorphism; Rectal cancer

Indexed keywords

5-FLUOROURACIL; BLOOD SAMPLES; CHEMORADIOTHERAPY; DNA REPAIR; EPIDERMAL GROWTH FACTOR RECEPTORS; EXCISION REPAIR; FLUOROPYRIMIDINES; GERMLINE; GLUTATHIONE-S-TRANSFERASE; NEOADJUVANT TREATMENT; NUCLEATED CELLS; OVERALL SURVIVAL; OXALIPLATIN; PATHOLOGIC RESPONSE; PERIPHERAL BLOOD; PHARMACOGENETICS; PROGRESSION FREE SURVIVAL; RECTAL CANCER; RESIDUAL TUMORS; RESPONSE RATE; SINGLE NUCLEOTIDE POLYMORPHISMS; THYMIDYLATE SYNTHASE;

BLOOD; DNA; GENE ENCODING; PATHOLOGY; PATIENT MONITORING; PATIENT TREATMENT; PEPTIDES; POLYMERASE CHAIN REACTION; POLYMORPHISM; RATING; REPAIR;

DISEASES;

CAPECITABINE; EPIDERMAL GROWTH FACTOR RECEPTOR; EXCISION REPAIR CROSS COMPLEMENTING PROTEIN 1; FLUOROURACIL; GLUTATHIONE TRANSFERASE P1; OXALIPLATIN; THYMIDYLATE SYNTHASE; XERODERMA PIGMENTOSUM GROUP D PROTEIN; XRCC1 PROTEIN;

ADULT; AGED; ARTICLE; BLOOD SAMPLING; CANCER PATIENT; CANCER STAGING; CHEMORADIOTHERAPY; CONTROLLED STUDY; DNA EXTRACTION; DNA REPAIR; EXCISION REPAIR; FEMALE; GENE AMPLIFICATION; GENE EXPRESSION; GENE SEQUENCE; GENETIC MARKER; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; OVERALL SURVIVAL; PERIPHERAL BLOOD MONONUCLEAR CELL; PHARMACOGENETICS; POLYMERASE CHAIN REACTION; PREOPERATIVE CARE; PRIORITY JOURNAL; PROGRESSION FREE SURVIVAL; RECTUM CANCER; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; AGED, 80 AND OVER; ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; CHEMORADIOTHERAPY; DISEASE-FREE SURVIVAL; DNA REPAIR; DNA-BINDING PROTEINS; FEMALE; GENETIC MARKERS; GENOTYPE; GLUTATHIONE S-TRANSFERASE PI; HUMANS; MALE; MIDDLE AGED; NEOPLASM STAGING; NEOPLASM, RESIDUAL; PERIOPERATIVE CARE; POLYMORPHISM, GENETIC; RECEPTOR, EPIDERMAL GROWTH FACTOR; RECTAL NEOPLASMS; REMISSION INDUCTION; THYMIDYLATE SYNTHASE; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

EID: 81855194067     PISSN: 03603016     EISSN: 1879355X     Source Type: Journal    
DOI: 10.1016/j.ijrobp.2011.01.025     Document Type: Article

References (42)

1. R. Sauer, H. Becker, and W. Hohenberger Preoperative versus postoperative chemoradiotherapy for rectal cancer N Engl J Med 351 2004 1731 1740
2. J.A. Meyerhardt, and R.J. Mayer Systemic therapy for colorectal cancer N Engl J Med 352 2005 476 487
3. D.B. Longley, D.P. Harkin, and P.G. Johnston 5-Fluorouracil: Mechanisms of action and clinical strategies Nat Rev Cancer 3 2003 330 338 (Pubitemid 37328853)
4. P.V. Danenberg Thymidylate synthetase - A target enzyme in cancer chemotherapy Biochim Biophys Acta 473 1977 73 92 (Pubitemid 8238357)
5. N. Horie, H. Aiba, and K. Oguro 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 20 1995 191 197
6. K. Kawakami, K. Omura, and E. Kanehira Polymorphic tandem repeats in the thymidylate synthase gene is associated with its protein expression in human gastrointestinal cancers Anticancer Res 19 1999 3249 3252 (Pubitemid 30042617)
7. K. Kawakami, D. Salonga, and J.M. Park Different lengths of a polymorphic repeat sequence in the thymidylate synthase gene affect translational efficiency but not its gene expression Clin Cancer Res 7 2001 4096 4101 (Pubitemid 34044633)
8. M.V. Mandola, J. Stoehlmacher, and S. Muller-Weeks A novel single nucleotide polymorphism within the 5′ tandem repeat polymorphism of the thymidylate synthase gene abolishes USF-1 binding and alters transcriptional activity Cancer Res 63 2003 2898 2904 (Pubitemid 36667162)
9. K. Kawakami, and G. Watanabe Identification and functional analysis of single nucleotide polymorphism in the tandem repeat sequence of thymidylate synthase gene Cancer Res 63 2003 6004 6007 (Pubitemid 37187503)
10. M. Gusella, C. Bolzonella, and G. Crepaldi A novel G/C single-nucleotide polymorphism in the double 28-bp repeat thymidylate synthase allele Pharmacogenomics J 6 2006 421 424 (Pubitemid 44811538)
11. L. Pare, E. Marcuello, and A. Altes Transcription factor-binding sites in the thymidylate synthase gene: Predictors of outcome in patients with metastatic colorectal cancer treated with 5-fluorouracil and oxaliplatin? Pharmacogenomics J 8 2008 315 320
12. M. Saundes, and T. Ivenson Management of advanced colorectal cancer: State of the art Br J Cancer 95 2006 131 138
13. E. Raymond, S. Faivre, and J.M. Woynarowski Oxaliplatin: Mechanism of action and antineoplastic activity Semin Oncol 25 1998 4 12 (Pubitemid 28248696)
14. E. Reed ERCC1 and clinical resistance to platinum-based therapy Clin Cancer Res 11 2005 6100 6102 (Pubitemid 41262934)
15. J.H. Hoeijmakers Genome maintenance mechanisms for preventing cancer Nature 411 2001 366 374 (Pubitemid 32467046)
16. M.R. Shen, I.M. Jones, and H. Mohrenweiser Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans Cancer Res 58 1998 604 608 (Pubitemid 28099464)
17. B.C. Broughton, H. Steingrimsdottir, and A.R. Lehmann Five polymorphisms in the coding sequence of the xeroderma pigmentosum group D gene Mutat Res 362 1996 209 211 (Pubitemid 26070995)
18. K.J. Cullen, K.A. Newkirk, and L.M. Shumaker Glutathione S-transferase π amplification is associated with cisplatin resistance in head and neck squamous cell carcinoma cell lines and primary tumors Cancer Res 63 2003 8097 8102 (Pubitemid 37549452)
19. J. Stoehlmacher, D.J. Park, and W. Zhang A multivariate analysis of genomic polymorphisms: Prediction of clinical outcome to 5-FU/oxaliplatin combination chemotherapy in refractory colorectal cancer Br J Cancer 91 2004 344 354 (Pubitemid 39037082)
20. G.L. Dianov Monitoring base excision repair by in vitro assays Toxicology 15 2003 35 41 (Pubitemid 37340142)
21. J.J. Laskin, and A.B. Sandler Epidermal growth factor receptor: A promising target in solid tumours Cancer Treat Rev 30 2004 1 17 (Pubitemid 38240085)
22. T. Moriai, M.S. Kobrin, and C. Hope A variant epidermal growth factor receptor exhibits altered type alpha transforming growth factor binding and transmembrane signaling Proc Natl Acad Sci USA 91 1994 10217 10221 (Pubitemid 24311980)
23. W. Zhang, D.J. Park, and B. Lu Epidermal growth factor receptor gene polymorphisms predict pelvic recurrence in patients with rectal cancer treated with chemoradiation Clin Cancer Res 11 2005 600 605 (Pubitemid 40116885)
24. J.E. Tepper, M. O'Connell, and D. Niedzwiecki Adjuvant therapy in rectal cancer: Analysis of stage, sex, and local control - Final report of Intergroup 0114 J Clin Oncol 20 2002 1744 1750 (Pubitemid 34273262)
25. I.D. Nagtegaal, C.A. Marijnen, and E.K. Kranenbarg Circumferential margin involvement is still an important predictor of local recurrence in rectal carcinoma: Not one millimeter but two millimeters is the limit Am J Surg Pathol 26 2002 350 357 (Pubitemid 34184459)
26. A.M. Mandard, F. Dalibard, and J.C. Mandard Pathologic assessment of tumor regression after preoperative chemoradiotherapy of esophageal carcinoma: Clinicopathologic correlations Cancer 73 1994 2680 2686 (Pubitemid 24166250)
27. N.A. Janjan, V.S. Khoo, and J. Abbruzzese Tumor downstaging and sphincter preservation with preoperative chemoradiation in locally advanced rectal cancer: The M. D. Anderson Cancer Center experience Int J Radiat Oncol Biol Phys 44 1999 1027 1038 (Pubitemid 29342903)
28. S.A. Miller, D.D. Dykes, and H.F. Polesky A simple salting out procedure for extracting DNA from human nucleated cells Nucleic Acids Res 16 1988 1215
29. J.P. Gérard, T. Conroy, and F. Bonnetain Preoperative radiotherapy with or without concurrent fluorouracil and leucovorin in T3-4 rectal cancers: Results of FFCD 9203 J Clin Oncol 24 2006 4620 4625 (Pubitemid 46630960)
30. E. Villafranca, Y. Okruzhnov, and M.A. Dominguez Polymorphisms of the repeated sequences in the enhancer region of the thymidylate synthase gene promoter may predict downstaging after preoperative chemoradiation in rectal cancer J Clin Oncol 19 2001 1779 1786 (Pubitemid 32230880)
31. K.L. Spindler, J.N. Nielsen, and J. Lindebjerg Germline polymorphisms may act as predictors of response to preoperative chemoradiation in locally advanced T3 rectal tumors Dis Colon Rectum 50 2007 1363 1369 (Pubitemid 47472390)
32. J. Stoehlmacher, E. Goekkurt, and U. Mogck Thymidylate synthase genotypes and tumor regression in stage II/III rectal cancer patients after neoadjuvant fluorouracil-based chemoradiation Cancer Lett 272 2008 221 225
33. E. Cecchin, M. Agostini, and S. Pucciarelli Tumor response is predicted by patient genetic profile in rectal cancer patients treated with neo-adjuvant chemo-radiotherapy Pharmacogenomics J Epub 2010 Apr 6
34. E. Balboa, G. Duran, and M.J. Lamas Pharmacogenetic analysis in neoadjuvant chemoradiation for rectal cancer: High incidence of somatic mutations and their relation with response Pharmacogenomics 11 2010 747 761
35. D. Páez, L. Paré, and A. Altés Thymidylate synthase germline polymorphisms in rectal cancer patients treated with neoadjuvant chemoradiotherapy based on 5-fluorouracil J Cancer Res Clin Oncol Epub 2010 Feb 18
36. M.J. Gosens, R.A. Klaassen, and I. Tan-Go Circumferential margin involvement is the crucial prognostic factor after multimodality treatment in patients with locally advanced rectal carcinoma Clin Cancer Res 13 2007 6617 6623 (Pubitemid 350206796)
37. D. Sebag-Montefiore, R.J. Stephens, and R. Steele Preoperative radiotherapy versus selective postoperative chemoradiotherapy in patients with rectal cancer (MRC CR07 and NCIC-CTG C016): A multicentre, randomised trial Lancet 373 2009 811 820
38. J.P. Gérard, D. Azria, and S. Gourgou-Bourgade Comparison of two neoadjuvant chemoradiotherapy regimens for locally advanced rectal cancer: Results of the phase III trial ACCORD 12/0405-Prodige 2 J Clin Oncol 28 2010 1638 1644
39. C. Fernández-Martos, C. Pericay, and J. Aparicio Phase II, randomized study of concomitant chemoradiotherapy followed by surgery and adjuvant capecitabine plus oxaliplatin (CAPOX) compared with induction CAPOX followed by concomitant che-moradiotherapy and surgery in magnetic resonance imaging-defined, locally advanced rectal cancer: Grupo cancer de recto 3 study J Clin Oncol 28 2010 859 865
40. J. Stoehlmacher, V. Ghaderi, and S. Iobal A polymorphism of the XRCC1 gene predicts for response to platinum based treatment in advanced colorectal cancer Anticancer Res 21 2001 3075 3079 (Pubitemid 33051178)
41. K.W. Suh, J.H. Kim, and Y. Kim do Which gene is a dominant predictor of response during FOLFOX chemotherapy for the treatment of metastatic colorectal cancer, the MTHFR or XRCC1 gene? Ann Surg Oncol 13 2006 1379 1385
42. A. Ruzzo, F. Graziano, and F. Loupakis Pharmacogenetic profiling in patients with advanced colorectal cancer treated with first-line FOLFOX-4 chemotherapy J Clin Oncol 25 2007 1247 1254 (Pubitemid 46640571)