Association of single nucleotide polymorphisms in the genes ATM, GSTP1, SOD2, TGFB1, XPD and XRCC1 with risk of severe erythema after breast conserving radiotherapy

Radiation Oncology

Volumn 7, Issue 1, 2012, Pages

  Raabe, Annette ^a   Derda, Katharina ^a   Reuther, Sebastian ^a   Szymczak, Silke ^b   Borgmann, Kerstin ^a   Hoeller, Ulrike ^c   Ziegler, Andreas ^b   Petersen, Cordula ^a   Dikomey, Ekkehard ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY OF LÜBECK   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Breast cancer; Erythema; Radiotherapy; Single nucleotide polymorphisms (SNPs)

Indexed keywords

ATM PROTEIN; GLUTATHIONE TRANSFERASE P1; MANGANESE SUPEROXIDE DISMUTASE; TRANSFORMING GROWTH FACTOR BETA1; XERODERMA PIGMENTOSUM GROUP D PROTEIN; XRCC1 PROTEIN; CELL CYCLE PROTEIN; DNA BINDING PROTEIN; ERCC2 PROTEIN, HUMAN; GSTP1 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE; SUPEROXIDE DISMUTASE; TGFB1 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN; X-RAY REPAIR CROSS COMPLEMENTING PROTEIN 1;

ADULT; AGED; ALLELE; ARTICLE; BREAST CANCER; BREAST CONSERVING RADIOTHERAPY; BREAST FIBROSIS; CANCER RADIOTHERAPY; CANCER SURGERY; CODON; CONTROLLED STUDY; ERYTHEMA; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; MULTIMODALITY CANCER THERAPY; PARTIAL MASTECTOMY; POLYMERASE CHAIN REACTION; RADIATION DOSE FRACTIONATION; RADIATION INJURY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETROSPECTIVE STUDY; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; BREAST TUMOR; CARCINOMA; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; PHYSIOLOGY; RISK FACTOR; SEVERITY OF ILLNESS INDEX;

ADULT; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; CARCINOMA; CELL CYCLE PROTEINS; DNA-BINDING PROTEINS; ERYTHEMA; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GLUTATHIONE S-TRANSFERASE PI; HUMANS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; RADIATION INJURIES; RETROSPECTIVE STUDIES; RISK FACTORS; SEVERITY OF ILLNESS INDEX; SUPEROXIDE DISMUTASE; TRANSFORMING GROWTH FACTOR BETA1; TUMOR SUPPRESSOR PROTEINS; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

EID: 84862207300     PISSN: None     EISSN: 1748717X     Source Type: Journal    
DOI: 10.1186/1748-717X-7-65     Document Type: Article

References (53)

1. Jung H, Beck-Bornholdt HP, Svoboda V, Alberti W, Herrmann T. Quantification of late complications after radiation therapy. Radiother Oncol 2001, 61:233-246. 10.1016/S0167-8140(01)00457-1, 11730992.
2. Ko C, Citrin D. Radiotherapy for the management of locally advanced squamous cell carcinoma of the head and neck. Oral Dis 2009, 15:121-132. 10.1111/j.1601-0825.2008.01495.x, 2640438, 19036056.
3. Baumann M, Herrmann T, Koch R, Matthiessen W, Appold S, Wahlers B, Kepka L, Marschke G, Feltl D, Fietkau R, et al. Final results of the randomized phase III CHARTWEL-trial (ARO 97-1) comparing hyperfractionated-accelerated versus conventionally fractionated radiotherapy in non-small cell lung cancer (NSCLC). Radiother Oncol 2011, 100:76-85. 10.1016/j.radonc.2011.06.031, 21757247.
4. Hatton M, Nankivell M, Lyn E, Falk S, Pugh C, Navani N, Stephens R, Parmar M. Induction chemotherapy and continuous hyperfractionated accelerated radiotherapy (chart) for patients with locally advanced inoperable non-small-cell lung cancer: the MRC INCH randomized trial. Int J Radiat Oncol Biol Phys 2011, 81:712-718. 10.1016/j.ijrobp.2010.06.053, 20932667.
5. Turesson I, Nyman J, Holmberg E, Oden A. Prognostic factors for acute and late skin reactions in radiotherapy patients. Int J Radiat Oncol Biol Phys 1996, 36:1065-1075. 10.1016/S0360-3016(96)00426-9, 8985028.
6. Safwat A, Bentzen SM, Turesson I, Hendry JH. Deterministic rather than stochastic factors explain most of the variation in the expression of skin telangiectasia after radiotherapy. Int J Radiat Oncol Biol Phys 2002, 52:198-204. 10.1016/S0360-3016(01)02690-6, 11777639.
7. Alsner J, Andreassen CN, Overgaard J. Genetic markers for prediction of normal tissue toxicity after radiotherapy. Semin Radiat Oncol 2008, 18:126-135. 10.1016/j.semradonc.2007.10.004, 18314067.
8. Andreassen CN, Alsner J. Genetic variants and normal tissue toxicity after radiotherapy: a systematic review. Radiother Oncol 2009, 92:299-309. 10.1016/j.radonc.2009.06.015, 19683821.
9. Quarmby S, Fakhoury H, Levine E, Barber J, Wylie J, Hajeer AH, West C, Stewart A, Magee B, Kumar S. 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 2003, 79:137-143.
10. Andreassen CN, Alsner J, Overgaard J, Herskind C, Haviland J, Owen R, Homewood J, Bliss J, Yarnold J. TGFB1 polymorphisms are associated with risk of late normal tissue complications in the breast after radiotherapy for early breast cancer. Radiother Oncol 2005, 75:18-21. 10.1016/j.radonc.2004.12.012, 15878096.
11. De Ruyck K, Van Eijkeren M, Claes K, Bacher K, Vral A, De Neve W, Thierens H. TGFbeta1 polymorphisms and late clinical radiosensitivity in patients treated for gynecologic tumors. Int J Radiat Oncol Biol Phys 2006, 65:1240-1248. 10.1016/j.ijrobp.2006.03.047, 16798416.
12. Giotopoulos G, Symonds RP, Foweraker K, Griffin M, Peat I, Osman A, Plumb M. The late radiotherapy normal tissue injury phenotypes of telangiectasia, fibrosis and atrophy in breast cancer patients have distinct genotype-dependent causes. Br J Cancer 2007, 96:1001-1007. 10.1038/sj.bjc.6603637, 2360097, 17325707.
13. Kim SY, Han SW, Kim GW, Lee JM, Kang YM. TGF-beta1 polymorphism determines the progression of joint damage in rheumatoid arthritis. Scand J Rheumatol 2004, 33:389-394. 10.1080/03009740410010344, 15794197.
14. Andreassen CN, Alsner J, Overgaard M, Sorensen FB, Overgaard J. 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 2006, 82:577-586. 10.1080/09553000600876637, 16966185.
15. Damaraju S, Murray D, Dufour J, Carandang D, Myrehaug S, Fallone G, Field C, Greiner R, Hanson J, Cass CE, Parliament M. 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 2006, 12:2545-2554. 10.1158/1078-0432.CCR-05-2703, 16638864.
16. Barnett GC, Coles CE, Burnet NG, Pharoah PD, Wilkinson J, West CM, Elliott RM, Baynes C, Dunning AM. No association between SNPs regulating TGF-beta1 secretion and late radiotherapy toxicity to the breast: results from the RAPPER study. Radiother Oncol 2010, 97:9-14. 10.1016/j.radonc.2009.12.006, 3120654, 20096948.
17. Martin S, Sydenham M, Haviland J, A'Hern R, Owen R, Bliss J, Yarnold J. Test of association between variant tgbeta1 alleles and late adverse effects of breast radiotherapy. Radiother Oncol 2010, 97:15-18. 10.1016/j.radonc.2010.03.019, 20435363.
18. West C, Rosenstein BS, Alsner J, Azria D, Barnett G, Begg A, Bentzen S, Burnet N, Chang-Claude J, Chuang E, et al. Establishment of a Radiogenomics Consortium. Int J Radiat Oncol Biol Phys 2010, 76:1295-1296. 10.1016/j.ijrobp.2009.12.017, 20338472.
19. Chakravarti A. It's raining SNPs, hallelujah?. Nat Genet 1998, 19:216-217. 10.1038/885, 9662388.
20. Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 1999, 22:231-238. 10.1038/10290, 10391209.
21. Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R, Chakravarti A. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet 1999, 22:239-247. 10.1038/10297, 10391210.
22. Zschenker O, Raabe A, Boeckelmann IK, Borstelmann S, Szymczak S, Wellek S, Rades D, Hoeller U, Ziegler A, Dikomey E, Borgmann K. Association of single nucleotide polymorphisms in ATM, GSTP1, SOD2, TGFB1, XPD and XRCC1 with clinical and cellular radiosensitivity. Radiother Oncol 2010, 97:26-32. 10.1016/j.radonc.2010.01.016, 20170971.
23. Andreassen CN, Alsner J, Overgaard M, Overgaard J. Prediction of normal tissue radiosensitivity from polymorphisms in candidate genes. Radiother Oncol 2003, 69:127-135. 10.1016/j.radonc.2003.09.010, 14643949.
24. Jurinke C, Denissenko MF, Oeth P, Ehrich M, van den Boom D, Cantor CR. A single nucleotide polymorphism based approach for the identification and characterization of gene expression modulation using MassARRAY. Mutat Res 2005, 573:83-95. 10.1016/j.mrfmmm.2005.01.007, 15829239.
25. Ziegler A, König I, Thompson J. Biostatistical aspects of genome-wide association studies. Biom J 2008, 50:8-28. 10.1002/bimj.200710398, 18217698.
26. Borgmann K, Hoeller U, Nowack S, Bernhard M, Roper B, Brackrock S, Petersen C, Szymczak S, Ziegler A, Feyer P, et al. Individual radiosensitivity measured with lymphocytes may predict the risk of acute reaction after radiotherapy. Int J Radiat Oncol Biol Phys 2008, 71:256-264. 10.1016/j.ijrobp.2008.01.007, 18406889.
27. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, et al. Global variation in copy number in the human genome. Nature 2006, 444:444-454. 10.1038/nature05329, 2669898, 17122850.
28. Bentzen SM. Potential clinical impact of normal-tissue intrinsic radiosensitivity testing. Radiother Oncol 1997, 43:121-131. 10.1016/S0167-8140(97)01899-9, 9192956.
29. Mackay RI, Hendry JH. The modelled benefits of individualizing radiotherapy patients' dose using cellular radiosensitivity assays with inherent variability. Radiother Oncol 1999, 50:67-75. 10.1016/S0167-8140(98)00132-7, 10225559.
30. Bentzen SM, Parliament M, Deasy JO, Dicker A, Curran WJ, Williams JP, Rosenstein BS. Biomarkers and surrogate endpoints for normal-tissue effects of radiation therapy: the importance of dose-volume effects. Int J Radiat Oncol Biol Phys 2010, 76:S145-S150. 10.1016/j.ijrobp.2009.08.076, 3431963, 20171510.
31. Hayes JD, McLellan LI. Glutathione and glutathione-dependent enzymes represent a co-ordinately regulated defence against oxidative stress. Free Radic Res 1999, 31:273-300. 10.1080/10715769900300851, 10517533.
32. Lavin MF, Kozlov S. ATM activation and DNA damage response. Cell Cycle 2007, 6:931-942. 10.4161/cc.6.8.4180, 17457059.
33. Liochev SI, Fridovich I. The effects of superoxide dismutase on H2O2 formation. Free Radic Biol Med 2007, 42:1465-1469. 10.1016/j.freeradbiomed.2007.02.015, 17448892.
34. Chen J, Suter B. Xpd, a structural bridge and a functional link. Cell Cycle 2003, 2:503-506. 10.4161/cc.2.6.558, 14504460.
35. Caldecott KW. XRCC1 and DNA strand break repair. DNA Repair (Amst) 2003, 2:955-969.
36. Barcellos-Hoff MH. How tissues respond to damage at the cellular level: orchestration by transforming growth factor-{beta} (TGF-{beta}). BJR Suppl 2005, 27:123-127.
37. Ambrosone CB, Tian C, Ahn J, Kropp S, Helmbold I, von Fournier D, Haase W, Sautter-Bihl ML, Wenz F, Chang-Claude J. Genetic predictors of acute toxicities related to radiation therapy following lumpectomy for breast cancer: a case-series study. Breast Cancer Res 2006, 8:R40. 10.1186/bcr1526, 1779469, 16848913.
38. Isomura M, Oya N, Tachiiri S, Kaneyasu Y, Nishimura Y, Akimoto T, Hareyama M, Sugita T, Mitsuhashi N, Yamashita T, et al. IL12RB2 and ABCA1 genes are associated with susceptibility to radiation dermatitis. Clin Cancer Res 2008, 14:6683-6689. 10.1158/1078-0432.CCR-07-4389, 18927311.
39. Suga T, Ishikawa A, Kohda M, Otsuka Y, Yamada S, Yamamoto N, Shibamoto Y, Ogawa Y, Nomura K, Sho K, et al. Haplotype-based analysis of genes associated with risk of adverse skin reactions after radiotherapy in breast cancer patients. Int J Radiat Oncol Biol Phys 2007, 69:685-693. 10.1016/j.ijrobp.2007.06.021, 17889263.
40. Back M, Guerrieri M, Wratten C, Steigler A. Impact of radiation therapy on acute toxicity in breast conservation therapy for early breast cancer. Clin Oncol (R Coll Radiol) 2004, 16:12-16.
41. Fernando IN, Ford HT, Powles TJ, Ashley S, Glees JP, Torr M, Grafton D, Harmer CL. Factors affecting acute skin toxicity in patients having breast irradiation after conservative surgery: a prospective study of treatment practice at the Royal Marsden Hospital. Clin Oncol (R Coll Radiol) 1996, 8:226-233.
42. Freedman GM, Anderson PR, Li J, Eisenberg DF, Hanlon AL, Wang L, Nicolaou N. Intensity modulated radiation therapy (IMRT) decreases acute skin toxicity for women receiving radiation for breast cancer. Am J Clin Oncol 2006, 29:66-70. 10.1097/01.coc.0000197661.09628.03, 16462506.
43. Neal AJ, Torr M, Helyer S, Yarnold JR. Correlation of breast dose heterogeneity with breast size using 3D CT planning and dose-volume histograms. Radiother Oncol 1995, 34:210-218. 10.1016/0167-8140(95)01521-H, 7631027.
44. Burri RJ, Stock RG, Cesaretti JA, Atencio DP, Peters S, Peters CA, Fan G, Stone NN, Ostrer H, Rosenstein BS. Association of single nucleotide polymorphisms in SOD2, XRCC1 and XRCC3 with susceptibility for the development of adverse effects resulting from radiotherapy for prostate cancer. Radiat Res 2008, 170:49-59. 10.1667/RR1219.1, 18582155.
45. Popanda O, Marquardt JU, Chang-Claude J, Schmezer P. Genetic variation in normal tissue toxicity induced by ionizing radiation. Mutat Res 2009, 667:58-69. 10.1016/j.mrfmmm.2008.10.014, 19022265.
46. Becker T, Knapp M. A powerful strategy to account for multiple testing in the context of haplotype analysis. Am J Hum Genet 2004, 75:561-570. 10.1086/424390, 1182044, 15290652.
47. Werbrouck J, De Ruyck K, Duprez F, Veldeman L, Claes K, Van Eijkeren M, Boterberg T, Willems P, Vral A, De Neve W, Thierens H. Acute normal tissue reactions in head-and-neck cancer patients treated with IMRT: influence of dose and association with genetic polymorphisms in DNA DSB repair genes. Int J Radiat Oncol Biol Phys 2009, 73:1187-1195. 10.1016/j.ijrobp.2008.08.073, 19251090.
48. Chang-Claude J, Popanda O, Tan XL, Kropp S, Helmbold I, von Fournier D, Haase W, Sautter-Bihl ML, Wenz F, Schmezer P, Ambrosone CB. 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 2005, 11:4802-4809. 10.1158/1078-0432.CCR-04-2657, 16000577.
49. Chang-Claude J, Ambrosone CB, Lilla C, Kropp S, Helmbold I, von Fournier D, Haase W, Sautter-Bihl ML, Wenz F, Schmezer P, Popanda O. Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer. Br J Cancer 2009, 100:1680-1686. 10.1038/sj.bjc.6605036, 2696768, 19367277.
50. Iannuzzi CM, Atencio DP, Green S, Stock RG, Rosenstein BS. ATM mutations in female breast cancer patients predict for an increase in radiation-induced late effects. Int J Radiat Oncol Biol Phys 2002, 52:606-613. 10.1016/S0360-3016(01)02684-0, 11849780.
51. Appleby JM, Barber JB, Levine E, Varley JM, Taylor AM, Stankovic T, Heighway J, Warren C, Scott D. Absence of mutations in the ATM gene in breast cancer patients with severe responses to radiotherapy. Br J Cancer 1997, 76:1546-1549. 10.1038/bjc.1997.593, 2228198, 9413938.
52. Weissberg JB, Huang DD, Swift M. Radiosensitivity of normal tissues in ataxia-telangiectasia heterozygotes. Int J Radiat Oncol Biol Phys 1998, 42:1133-1136. 10.1016/S0360-3016(98)00295-8, 9869240.
53. Bremer M, Klopper K, Yamini P, Bendix-Waltes R, Dork T, Karstens JH. Clinical radiosensitivity in breast cancer patients carrying pathogenic ATM gene mutations: no observation of increased radiation-induced acute or late effects. Radiother Oncol 2003, 69:155-160. 10.1016/j.radonc.2003.08.004, 14643952.