Polymorphisms of ERCC1 genotype associated with response to imatinib therapy in chronic phase chronic myeloid leukemia

International Journal of Hematology

Volumn 96, Issue 3, 2012, Pages 327-333

  Kong, Jee Hyun ^a,b   Mun, Yeung Chul ^c   Kim, Seonwoo ^d   Choi, Hang Seok ^d   Kim, Yeo Kyeoung ^e   Kim, Hyeoung Joon ^e   Moon, Joon Ho ^f   Sohn, Sang Kyun ^f   Kim, Sung Hyun ^g   Jung, Chul Won ^a   Kim, Dong Hwan Dennis ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Wonju Severance Christian Hospital   (South Korea)

^c Ewha Womans University   (South Korea)

^d Samsung Medical Center   (South Korea)

^e Chonnam National University Research Institute of Medical Sciences   (South Korea)

^f Kyungpook National University Hospital   (South Korea)

^g Dong A University College of Medicine   (South Korea)

Author keywords

Chronic myeloid leukemia; DNA repair pathway; ERCC; Imatinib; Single nucleotide polymorphism

Indexed keywords

ERCC4 PROTEIN; ERCC5 PROTEIN; EXCISION REPAIR CROSS COMPLEMENTING PROTEIN 1; IMATINIB; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; UNCLASSIFIED DRUG; XERODERMA PIGMENTOSUM GROUP D PROTEIN; XRCC1 PROTEIN; XRCC2 PROTEIN; XRCC4 PROTEIN; XRCC5 PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CANCER RESISTANCE; CANCER SURVIVAL; CHRONIC MYELOID LEUKEMIA; CYTOGENETICS; DNA REPAIR; DRUG TREATMENT FAILURE; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION; HUMAN; KOREA; MAJOR CLINICAL STUDY; MALE; OVERALL SURVIVAL; PHARMACOGENETICS; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT OUTCOME; TREATMENT RESPONSE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; DNA-BINDING PROTEINS; ENDONUCLEASES; FEMALE; GENOTYPE; HUMANS; LEUKEMIA, MYELOID, CHRONIC-PHASE; MALE; MIDDLE AGED; PIPERAZINES; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN KINASE INHIBITORS; PYRIMIDINES; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84866981323     PISSN: 09255710     EISSN: 18653774     Source Type: Journal    
DOI: 10.1007/s12185-012-1142-6     Document Type: Article

References (43)

1. Quintas-Cardama A, Cortes JE. Chronic myeloid leukemia: diagnosis and treatment. Mayo Clin Proc. 2006;81:973-88.
2. Vilenchik MM, Knudson AG. Endogenous DNA double-strand breaks: production, fidelity of repair, and induction of cancer. Proc Natl Acad Sci USA. 2003;100:12871-6.
3. Penserga ET, Skorski T. Fusion tyrosine kinases: a result and cause of genomic instability. Oncogene. 2007;26:11-20.
4. Nowicki MO, Falinski R, Koptyra M, et al. BCR/ABL oncogenic kinase promotes unfaithful repair of the reactive oxygen speciesdependent DNA double-strand breaks. Blood. 2004;104:3746-53.
5. Cramer K, Nieborowska-Skorska M, Koptyra M, et al. BCR/ABL and other kinases from chronic myeloproliferative disorders stimulate single-strand annealing, an unfaithful DNA doublestrand break repair. Cancer Res. 2008;68:6884-8.
6. Kantarjian HM, Talpaz M, Giles F, O'Brien S, Cortes J. New insights into the pathophysiology of chronic myeloid leukemia and imatinib resistance. Ann Intern Med. 2006;145:913-23.
7. Calabretta B, Perrotti D. The biology of CML blast crisis. Blood. 2004;103:4010-22.
8. Pastink A, Eeken JC, Lohman PH. Genomic integrity and the repair of double-strand DNA breaks. Mutat Res. 2001;480-481: 37-50.
9. Friedberg EC. How nucleotide excision repair protects against cancer. Nat Rev Cancer. 2001;1:22-33.
10. de Laat WL, Jaspers NG, Hoeijmakers JH. Molecular mechanism of nucleotide excision repair. Genes Dev. 1999;13:768-85.
11. Takeda N, Shibuya M, Maru Y. The BCR-ABL oncoprotein potentially interacts with the xeroderma pigmentosum group B protein. Proc Natl Acad Sci USA. 1999;96:203-7.
12. Maru Y, Kobayashi T, Tanaka K, Shibuya M. BCR binds to the xeroderma pigmentosum group B protein. Biochem Biophys Res Commun. 1999;260:309-12.
13. Maru Y, Bergmann E, Coin F, Egly JM, Shibuya M. TFIIH functions are altered by the P210BCR-ABL oncoprotein produced on the Philadelphia chromosome. Mutat Res. 2001;483: 83-8.
14. Sliwinski T, Czechowska A, Szemraj J, Morawiec Z, Skorski T, Blasiak J. STI571 reduces NER activity in BCR/ABL-expressing cells.Mutat Res Genet Toxicol EnvironMutagen. 2008;654:162-7.
15. Zhu Y, Yang H, Chen Q, et al. Modulation of DNA damage/DNA repair capacity by XPC polymorphisms. DNA Repair (Amst). 2008;7:141-8.
16. Matullo G, Palli D, Peluso M, et al. XRCC1, XRCC3, XPD gene polymorphisms, smoking and (32)P-DNA adducts in a sample of healthy subjects. Carcinogenesis. 2001;22:1437-45.
17. Shen J, Gammon MD, Terry MB, et al. Polymorphisms in XRCC1 modify the association between polycyclic aromatic hydrocarbon-DNA adducts, cigarette smoking, dietary antioxidants, and breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2005;14:336-42.
18. Kim DH, Sriharsha L, Xu W, et al. Clinical relevance of a pharmacogenetic approach using multiple candidate genes to predict response and resistance to imatinib therapy in chronic myeloid leukemia. Clin Cancer Res. 2009;15:4750-8.
19. Kim DH, Kong JH, Byeun JY, et al. The IFNG (IFN-gamma) genotype predicts cytogenetic and molecular response to imatinib therapy in chronic myeloid leukemia. Clin Cancer Res. 2010; 16:5339-50.
20. Branford S, Fletcher L, Cross NC, et al. Desirable performance characteristics for BCR-ABL measurement on an international reporting scale to allow consistent interpretation of individual patient response and comparison of response rates between clinical trials. Blood. 2008;112:3330-8.
21. Muller MC, Saglio G, Lin F, et al. An international study to standardize the detection and quantitation of BCR-ABL transcripts from stabilized peripheral blood preparations by quantitative RT-PCR. Haematologica. 2007;92:970-3.
22. Branford S, Cross NC, Hochhaus A, et al. Rationale for the recommendations for harmonizing current methodology for detecting BCR-ABL transcripts in patients with chronic myeloid leukaemia. Leukemia. 2006;20:1925-30.
23. Druker BJ, Talpaz M, Resta DJ, et al. Efficacy and safety of a specific inhibitor of the BCR-ABL tyrosine kinase in chronic myeloid leukemia. N Engl J Med. 2001;344:1031-7.
24. Baccarani M, Saglio G, Goldman J, et al. Evolving concepts in the management of chronic myeloid leukemia: recommendations from an expert panel on behalf of the European LeukemiaNet. Blood. 2006;108:1809-20.
25. Au WY, Caguioa PB, Chuah C, et al. Chronic myeloid leukemia in Asia. Int J Hematol. 2009;89:14-23.
26. Kizaki M, Okamoto S, Tauchi T, et al. Current and future perspectives on the TARGET system: the registration system for Glivec established by the JSH. Int J Hematol. 2008;88:409-17.
27. Strom SS, Estey E, Outschoorn UM, Garcia-Manero G. Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients. Leuk Lymphoma. 2010;51:598-605.
28. Wang SL, Zhao H, Zhou B, et al. Polymorphisms in ERCC1 and susceptibility to childhood acute lymphoblastic leukemia in a Chinese population. Leuk Res. 2006;30:1341-5.
29. Ryu JS, Hong YC, Han HS, 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.
30. Park SR, Kong SY, Nam BH, et al. CYP2A6 and ERCC1 polymorphisms correlate with efficacy of S-1 plus cisplatin in metastatic gastric cancer patients. Br J Cancer. 2011;104:1126-34.
31. Han JY, Yoon KA, Park JH, et al. DNA repair gene polymorphisms and benefit from gefitinib in never-smokers with lung adenocarcinoma. Cancer. 2011;117:3201-8.
32. Seo BG, Kwon HC, Oh SY, et al. Comprehensive analysis of excision repair complementation group 1, glutathione S-transferase, thymidylate synthase and uridine diphosphate glucuronosyl transferase 1A1 polymorphisms predictive for treatment outcome in patients with advanced gastric cancer treated with FOLFOX or FOLFIRI. Oncol Rep. 2009;22:127-36.
33. Park SY, Hong YC, Kim JH, et al. Effect of ERCC1 polymorphisms and the modification by smoking on the survival of nonsmall cell lung cancer patients. Med Oncol. 2006;23:489-98.
34. Viguier J, Boige V, Miquel C, et al. ERCC1 codon 118 polymorphism is a predictive factor for the tumor response to oxaliplatin/ 5-fluorouracil combination chemotherapy in patients with advanced colorectal cancer. Clin Cancer Res. 2005;11:6212-7.
35. Pare L, Marcuello E, Altes A, et al. Pharmacogenetic prediction of clinical outcome in advanced colorectal cancer patients receiving oxaliplatin/5-fluorouracil as first-line chemotherapy. Br J Cancer. 2008;99:1050-5.
36. Zhou W, Gurubhagavatula S, Liu G, et al. Excision repair crosscomplementation group 1 polymorphism predicts overall survival in advanced non-small cell lung cancer patients treated with platinum-based chemotherapy. Clin Cancer Res. 2004;10: 4939-43.
37. Su D, Ma S, Liu P, et al. Genetic polymorphisms and treatment response in advanced non-small cell lung cancer. Lung Cancer. 2007;56:281-8.
38. Kang S, Ju W, Kim JW, et al. Association between excision repair cross-complementation group 1 polymorphism and clinical outcome of platinum-based chemotherapy in patients with epithelial ovarian cancer. Exp Mol Med. 2006;38:320-4.
39. Steffensen KD, Waldstrom M, Jeppesen U, Brandslund I, Jakobsen A. Prediction of response to chemotherapy by ERCC1 immunohistochemistry and ERCC1 polymorphism in ovarian cancer. Int J Gynecol Cancer. 2008;18:702-10.
40. Britten RA, Liu D, Tessier A, Hutchison MJ, Murray D. ERCC1 expression as a molecular marker of cisplatin resistance in human cervical tumor cells. Int J Cancer. 2000;89:453-7.
41. Selvakumaran M, Pisarcik DA, Bao R, Yeung AT, Hamilton TC. Enhanced cisplatin cytotoxicity by disturbing the nucleotide excision repair pathway in ovarian cancer cell lines. Cancer Res. 2003;63:1311-6.
42. Yu JJ, Mu C, Lee KB, et al. A nucleotide polymorphism in ERCC1 in human ovarian cancer cell lines and tumor tissues. Mutat Res. 1997;382:13-20.
43. Yu JJ, Lee KB, Mu C, et al. Comparison of two human ovarian carcinoma cell lines (A2780/CP70 and MCAS) that are equally resistant to platinum, but differ at codon 118 of the ERCC1 gene. Int J Oncol. 2000;16:555-60.