Association of single nucleotide polymorphisms in ATM, GSTP1, SOD2, TGFB1, XPD and XRCC1 with clinical and cellular radiosensitivity

Radiotherapy and Oncology

Volumn 97, Issue 1, 2010, Pages 26-32

  Zschenker, Oliver ^a   Raabe, Annette ^a   Boeckelmann, Inga Kathleen ^a   Borstelmann, Sonko ^a   Szymczak, Silke ^b   Wellek, Stefan ^c   Rades, Dirk ^a,d   Hoeller, Ulrike ^e   Ziegler, Andreas ^b   Dikomey, Ekkehard ^a   Borgmann, Kerstin ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY OF LÜBECK   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Breast cancer; Fibrosis; Individual radiosensitivity; Radiotherapy; Single nucleotide polymorphisms (SNPs)

Indexed keywords

ATM PROTEIN; DNA; GLUTATHIONE TRANSFERASE P1; MANGANESE SUPEROXIDE DISMUTASE; TRANSFORMING GROWTH FACTOR BETA1; XERODERMA PIGMENTOSUM GROUP D PROTEIN; XRCC1 PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BREAST CANCER; BREAST FIBROSIS; CODON; CONTROLLED STUDY; DNA EXTRACTION; FEMALE; GENETIC RISK; GENOTYPE; HIGH RISK PATIENT; HUMAN; MAJOR CLINICAL STUDY; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RADIATION DOSE; RADIOSENSITIVITY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETROSPECTIVE STUDY; RISK ASSESSMENT; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

ALLELES; BREAST NEOPLASMS; CELL CYCLE PROTEINS; CODON; DNA-BINDING PROTEINS; FEMALE; FIBROSIS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLUTATHIONE S-TRANSFERASE PI; HUMANS; MIDDLE AGED; NEOPLASM STAGING; POLYMORPHISM, SINGLE NUCLEOTIDE; POSTMENOPAUSE; PROTEIN-SERINE-THREONINE KINASES; RADIATION TOLERANCE; RADIOTHERAPY; RADIOTHERAPY DOSAGE; RISK FACTORS; SUPEROXIDE DISMUTASE; TRANSFORMING GROWTH FACTOR BETA1; TUMOR SUPPRESSOR PROTEINS; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

EID: 77957877713     PISSN: 01678140     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.radonc.2010.01.016     Document Type: Article

References (51)

1. S.M. Bentzen, and J. Overgaard Patient-to-patient variability in the expression of radiation-induced normal tissue injury Semin Radiat Oncol 4 1994 68 80
2. E. Dikomey, K. Borgmann, J. Peacock, and H. Jung Why recent studies relating normal tissue response to individual radiosensitivity might have failed and how new studies should be performed Int J Radiat Oncol Biol Phys 56 2003 1194 1200
3. A.Y. Ho, D.P. Atencio, and S. Peters Genetic predictors of adverse radiotherapy effects: the gene-PARE project Int J Radiat Oncol Biol Phys 65 2006 646 655
4. C.M. West, M.J. McKay, and T. Holscher Molecular markers predicting radiotherapy response: report and recommendations from an International Atomic Energy Agency technical meeting Int J Radiat Oncol Biol Phys 62 2005 1264 1273
5. K. Borgmann, U. Hoeller, and S. Nowack Individual radiosensitivity measured with lymphocytes may predict the risk of acute reaction after radiotherapy Int J Radiat Oncol Biol Phys 71 2008 256 264
6. U. Hoeller, K. Borgmann, and M. Bonacker Individual radiosensitivity measured with lymphocytes may be used to predict the risk of fibrosis after radiotherapy for breast cancer Radiother Oncol 69 2003 137 144
7. C.M. West, S.E. Davidson, and S.A. Elyan Lymphocyte radiosensitivity is a significant prognostic factor for morbidity in carcinoma of the cervix Int J Radiat Oncol Biol Phys 51 2001 10 15
8. K. De Ruyck, M. Van Eijkeren, and K. Claes Radiation-induced damage to normal tissues after radiotherapy in patients treated for gynecologic tumors: association with single nucleotide polymorphisms in XRCC1, XRCC3, and OGG1 genes and in vitro chromosomal radiosensitivity in lymphocytes Int J Radiat Oncol Biol Phys 62 2005 1140 1149
9. K. Borgmann, D. Haeberle, T. Doerk, A. Busjahn, G. Stephan, and E. Dikomey Genetic determination of chromosomal radiosensitivities in G0- and G2-phase human lymphocytes Radiother Oncol 83 2007 196 202
10. E. Dikomey, K. Borgmann, I. Brammer, and U. Kasten-Pisula Molecular mechanisms of individual radiosensitivity studied in normal diploid human fibroblasts Toxicology 193 2003 125 135
11. J. Alsner, C.N. Andreassen, and J. Overgaard Genetic markers for prediction of normal tissue toxicity after radiotherapy Semin Radiat Oncol 18 2008 126 135
12. T. Suga, M. Iwakawa, and H. Tsuji Influence of multiple genetic polymorphisms on genitourinary morbidity after carbon ion radiotherapy for prostate cancer Int J Radiat Oncol Biol Phys 2008
13. T. Suga, A. Ishikawa, and M. Kohda Haplotype-based analysis of genes associated with risk of adverse skin reactions after radiotherapy in breast cancer patients Int J Radiat Oncol Biol Phys 69 2007 685 693
14. S. Damaraju, D. Murray, and J. Dufour Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer Clin Cancer Res 12 2006 2545 2554
15. C. Jurinke, M.F. Denissenko, P. Oeth, M. Ehrich, D. Van den Boom, and C.R. Cantor A single nucleotide polymorphism based approach for the identification and characterization of gene expression modulation using MassARRAY Mutat Res 573 2005 83 95
16. A. Ziegler, I. König, and J. Thompson Biostatistical aspects of genome-wide association studies Biomed J 50 2008 8 28
17. J. Simon-Sanchez, S. Scholz, and H.C. Fung Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals Hum Mol Genet 16 2007 1 14
18. S.A. McCarroll, F.G. Kuruvilla, and J.M. Korn Integrated detection and population-genetic analysis of SNPs and copy number variation Nat Genet 40 2008 1166 1174
19. K. Wang, M. Li, and D. Hadley PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data Genome Res 17 2007 1665 1674
20. D.J. Balding A tutorial on statistical methods for population association studies Nat Rev 7 2006 781 791
21. C.N. Andreassen, J. Alsner, M. Overgaard, and J. Overgaard Prediction of normal tissue radiosensitivity from polymorphisms in candidate genes Radiother Oncol 69 2003 127 135
22. C.N. Andreassen, J. Alsner, and J. Overgaard TGFB1 polymorphisms are associated with risk of late normal tissue complications in the breast after radiotherapy for early breast cancer Radiother Oncol 75 2005 18 21
23. G. Giotopoulos, R.P. Symonds, and K. Foweraker The late radiotherapy normal tissue injury phenotypes of telangiectasia, fibrosis and atrophy in breast cancer patients have distinct genotype-dependent causes Br J Cancer 96 2007 1001 1007
24. S. Quarmby, H. Fakhoury, and E. Levine Association of transforming growth factor beta-1 single nucleotide polymorphisms with radiation-induced damage to normal tissues in breast cancer patients Int J Radiat Biol 79 2003 137 143
25. D. Azria, M. Ozsahin, and A. Kramar Single nucleotide polymorphisms, apoptosis, and the development of severe late adverse effects after radiotherapy Clin Cancer Res 14 2008 6284 6288
26. C.N. Andreassen, J. Alsner, M. Overgaard, F.B. Sorensen, and J. Overgaard Risk of radiation-induced subcutaneous fibrosis in relation to single nucleotide polymorphisms in TGFB1, SOD2, XRCC1, XRCC3, APEX and ATM - a study based on DNA from formalin fixed paraffin embedded tissue samples Int J Radiat Biol 82 2006 577 586
27. N. Moullan, D.G. Cox, S. Angele, P. Romestaing, J.P. Gerard, and J. Hall Polymorphisms in the DNA repair gene XRCC1, breast cancer risk, and response to radiotherapy Cancer Epidemiol Biomarkers Prev 12 2003 1168 1174
28. J. Chang-Claude, C.B. Ambrosone, and C. Lilla Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer Br J Cancer 100 2009 1680 1686
29. C.N. Andreassen, J. Overgaard, and J. Alsner ATM sequence variants and risk of radiation-induced subcutaneous fibrosis after postmastectomy radiotherapy Int J Radiat Oncol Biol Phys 64 2006 776 783
30. S. Angele, P. Romestaing, and N. Moullan ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity Cancer Res 63 2003 8717 8725
31. A.Y. Ho, G. Fan, and D.P. Atencio Possession of ATM sequence variants as predictor for late normal tissue responses in breast cancer patients treated with radiotherapy Int J Radiat Oncol Biol Phys 69 2007 677 684
32. J.A. Cesaretti, R.G. Stock, and S. Lehrer ATM sequence variants are predictive of adverse radiotherapy response among patients treated for prostate cancer Int J Radiat Oncol Biol Phys 61 2005 196 202
33. N. Kuptsova, J. Chang-Claude, and S. Kropp Genetic predictors of long-term toxicities after radiation therapy for breast cancer Int J Cancer 122 2008 1333 1339
34. H. Edvardsen, V.N. Kristensen, and G.I. Grenaker Alnaes Germline glutathione S-transferase variants in breast cancer: relation to diagnosis and cutaneous long-term adverse effects after two fractionation patterns of radiotherapy Int J Radiat Oncol Biol Phys 67 2007 1163 1171
35. H. Green, G. Ross, J. Peacock, R. Owen, J. Yarnold, and R. Houlston Variation in the manganese superoxide dismutase gene (SOD2) is not a major cause of radiotherapy complications in breast cancer patients Radiother Oncol 63 2002 213 216
36. J. Chang-Claude, O. Popanda, and X.L. Tan Association between polymorphisms in the DNA repair genes, XRCC1, APE1, and XPD and acute side effects of radiotherapy in breast cancer patients Clin Cancer Res 11 2005 4802 4809
37. J.D. Hayes, and L.I. McLellan Glutathione and glutathione-dependent enzymes represent a co-ordinately regulated defence against oxidative stress Free Radic Res 31 1999 273 300
38. S.I. Liochev, and I. Fridovich The effects of superoxide dismutase on H2O2 formation Free Radic Biol Med 42 2007 1465 1469
39. Lavin, MF, Kozlov, S. ATM activation and DNA damage response. Cell cycle (Georgetown, Tex 2007;6:931-942.
40. Chen, J, Suter, B. Xpd, a structural bridge and a functional link. Cell cycle (Georgetown, Tex 2003;2:503-506.
41. K.W. Caldecott XRCC1 and DNA strand break repair DNA Repair 2 2003 955 969
42. M.H. Barcellos-Hoff How tissues respond to damage at the cellular level: orchestration by transforming growth factor-{beta} (TGF-{beta}) BJR Supplement/BIR 27 2005 123 127
43. S. Gutierrez-Enriquez, M. Fernet, and T. Dork Functional consequences of ATM sequence variants for chromosomal radiosensitivity Genes Chromosomes Cancer 40 2004 109 119
44. P. Willems, K. Claes, and A. Baeyens Polymorphisms in nonhomologous end-joining genes associated with breast cancer risk and chromosomal radiosensitivity Genes Chromosomes Cancer 47 2008 137 148
45. G. Alsbeih, M. El-Sebaie, N. Al-Harbi, M. Al-Buhairi, K. Al-Hadyan, and N. Al-Rajhi Radiosensitivity of human fibroblasts is associated with amino acid substitution variants in susceptible genes and correlates with the number of risk alleles Int J Radiat Oncol Biol Phys 68 2007 229 235
46. W.W. Au, S.A. Salama, and C.H. Sierra-Torres Functional characterization of polymorphisms in DNA repair genes using cytogenetic challenge assays Environ Health Perspect 111 2003 1843 1850
47. T. Cornetta, F. Festa, A. Testa, and R. Cozzi DNA damage repair and genetic polymorphisms: assessment of individual sensitivity and repair capacity Int J Radiat Oncol Biol Phys 66 2006 537 545
48. J. Rzeszowska-Wolny, J. Polanska, and M. Pietrowska Et al. Influence of polymorphisms in DNA repair genes XPD, XRCC1 and MGMT on DNA damage induced by gamma radiation and its repair in lymphocytes in vitro Radiat Res 164 2005 132 140
49. I.M. Jones, C.B. Thomas, T. Xi, H.W. Mohrenweiser, and D.O. Nelson Exploration of methods to identify polymorphisms associated with variation in DNA repair capacity phenotypes Mutat Res 616 2007 213 220
50. P. Vodicka, R. Stetina, and V. Polakova Association of DNA repair polymorphisms with DNA repair functional outcomes in healthy human subjects Carcinogenesis 28 2007 657 664
51. J.J. Hu, T.R. Smith, M.S. Miller, H.W. Mohrenweiser, A. Golden, and L.D. Case Amino acid substitution variants of APE1 and XRCC1 genes associated with ionizing radiation sensitivity Carcinogenesis 22 2001 917 922