Can risk of radiotherapy-induced normal tissue complications be predicted from genetic profiles?

References

• Bentzen SM, Overgaard J. Patient-to-patient variability in the expression of radiation-induced normal tissue injury. Semin Radiat Oncol 1994; 4: 68–80
   PubMedGoogle Scholar
• Burnet NG, Johansen J, Turesson I, Nyman J, Peacock JH. Describing patients' normal tissue reactions: concerning the possibility of individualising radiotherapy dose prescriptions based on potential predictive assays of normal tissue radiosensitivity. Steering Committee of the BioMed2 European Union Concerted Action Programme on the Development of Predictive Tests of Normal Tissue Response to Radiation Therapy. Int J Cancer 1998; 79: 606–13
   PubMed Web of Science ®Google Scholar
• Russell NS, Begg AC. Editorial radiotherapy and oncology : predictive assays for normal tissue damage. Radiother Oncol ;64 2002; 2002: 125–9
   Google Scholar
• Fernet M, Hall J. Genetic biomarkers of therapeutic radiation sensitivity. DNA Repair (Amst) 2004; 3: 1237–43
   PubMed Web of Science ®Google Scholar
• Baumann M, Holscher T, Begg AC. Towards genetic prediction of radiation responses: ESTRO's GENEPI project. Radiother Oncol 2003; 69: 121–5
   PubMed Web of Science ®Google Scholar
• Gotoff SP, Amirmokri E, Liebner EJ. Ataxia telangiectasia. Neoplasia, untoward response to x-irradiation, and tuberous sclerosis. Am J Dis Child 1967; 114: 617–25
   PubMedGoogle Scholar
• Alter BP. Radiosensitivity in Fanconi's anemia patients. Radiother Oncol 2002; 62: 345–7
   PubMed Web of Science ®Google Scholar
• Rogers PB, Plowman PN, Harris SJ, Arlett CF. Four radiation hypersensitivity cases and their implications for clinical radiotherapy. Radiother Oncol 2000; 57: 143–54
   PubMed Web of Science ®Google Scholar
• Burnet NG, Peacock JH. Normal cellular radiosensitivity in an adult Fanconi anaemia patient with marked clinical radiosensitivity. Radiother Oncol 2002; 62: 350–1
   PubMedGoogle Scholar
• Andreassen CN, Alsner J, Overgaard J. Does variability in normal tissue reactions after radiotherapy have a genetic basis–where and how to look for it?. Radiother Oncol 2002; 64: 131–40
   PubMed Web of Science ®Google Scholar
• De Ruyck, K, Van Eijkeren, M, Claes, K, Vral, A, De Neve, W, Thierens, H. Association of single nucleotide polymorphisms in TGFb1 with late radiation induced damage to normal tissues in patients treated with radiotherapy for gynaecological tumors, Meetings abstract # W30,. 35th Annual Meting of the European Environmental Mutagen Society (2005).
   Google Scholar
• Bourguignon MH, Gisone PA, Perez MR, Michelin S, Dubner D, Giorgio MD, et al. Genetic and epigenetic features in radiation sensitivity Part I: cell signalling in radiation response. Eur J Nucl Med Mol Imaging 2005; 32: 229–46
   PubMedGoogle Scholar
• Angele S, Romestaing P, Moullan N, Vuillaume M, Chapot B, Eriesen M, et al. ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity. Cancer Res 2003; 63: 8717–25
   PubMed Web of Science ®Google Scholar
• Ramsay J, Birrell G, Lavin M. Testing for mutations of the ataxia telangiectasia gene in radiosensitive breast cancer patients. Radiother Oncol 1998; 47: 125–8
   PubMedGoogle Scholar
• Appleby JM, Barber JB, Levine E, Varley JM, Taylor AM, Stankovic T, et al. Absence of mutations in the ATM gene in breast cancer patients with severe responses to radiotherapy. Br J Cancer 1997; 76: 1546–9
   PubMed Web of Science ®Google Scholar
• Clarke RA, Goozee GR, Birrell G, Fang ZM, Hasnain H, Lavin M, et al. Absence of ATM truncations in patients with severe acute radiation reactions. Int J Radiat Oncol Biol Phys 1998; 41: 1021–7
   PubMed Web of Science ®Google Scholar
• Weissberg JB, Huang DD, Swift M. Radiosensitivity of normal tissues in ataxia-telangiectasia heterozygotes. Int J Radiat Oncol Biol Phys 1998; 42: 1133–6
   PubMed Web of Science ®Google Scholar
• Shayeghi M, Seal S, Regan J, Collins N, Barfoot R, Rahman N, et al. Heterozygosity for mutations in the ataxia telangiectasia gene is not a major cause of radiotherapy complications in breast cancer patients. Br J Cancer 1998; 78: 922–7
   PubMedGoogle Scholar
• Hall EJ, Schiff PB, Hanks GE, Brenner DJ, Russo J, Chen J, et al. A preliminary report: frequency of A-T heterozygotes among prostate cancer patients with severe late responses to radiation therapy. Cancer J Sci Am 1998; 4: 385–9
   PubMed Web of Science ®Google Scholar
• Oppitz U, Bernthaler U, Schindler D, Sobeck A, Hoehn H, Platzer M, et al. Sequence analysis of the ATM gene in 20 patients with RTOG grade 3 or 4 acute and/or late tissue radiation side effects. Int J Radiat Oncol Biol Phys 1999; 44: 981–8
   PubMed Web of Science ®Google Scholar
• 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: 155–60
   PubMed Web of Science ®Google Scholar
• Borgmann K, Roper B, El Awady R, Brackrock S, Bigalke M, Dork T, et al. Indicators of late normal tissue response after radiotherapy for head and neck cancer: fibroblasts, lymphocytes, genetics, DNA repair, and chromosome aberrations. Radiother Oncol 2002; 64: 141–52
   PubMed Web of Science ®Google Scholar
• 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: 606–13
   PubMed Web of Science ®Google Scholar
• Cesaretti JA, Stock RG, Lehrer S, Atencio DA, Bernstein JL, Stone NN, et al. ATM sequence variants are predictive of adverse radiotherapy response among patients treated for prostate cancer. Int J Radiat Oncol Biol Phys 2005; 61: 196–202
   PubMedGoogle Scholar
• Bentzen SM, Overgaard M, Thames HD, Christensen JJ, Overgaard J. Early and late normal-tissue injury after postmastectomy radiotherapy alone or combined with chemotherapy. Int J Radiat Biol 1989; 56: 711–5
   PubMed Web of Science ®Google Scholar
• Bentzen SM, Overgaard M. Relationship between early and late normal-tissue injury after postmastectomy radiotherapy. Radiother Oncol 1991; 20: 159–65
   PubMed Web of Science ®Google Scholar
• Bentzen SM, Thames HD, Overgaard M. Latent-time estimation for late cutaneous and subcutaneous radiation reactions in a single-follow-up clinical study. Radiother Oncol 1989; 15: 267–74
   PubMed Web of Science ®Google Scholar
• Bentzen SM, Overgaard M, Overgaard J. Clinical correlations between late normal tissue endpoints after radiotherapy: implications for predictive assays of radiosensitivity. Eur J Cancer 1993; 29A: 1373–6
   PubMed Web of Science ®Google Scholar
• Johansen J, Bentzen SM, Overgaard J, Overgaard M. Relationship between the in vitro radiosensitivity of skin fibroblasts and the expression of subcutaneous fibrosis, telangiectasia, and skin erythema after radiotherapy. Radiother Oncol 1996; 40: 101–9
   PubMed Web of Science ®Google Scholar
• Overgaard M, Bentzen SM, Christensen JJ, Madsen EH. The value of the NSD formula in equation of acute and late radiation complications in normal tissue following 2 and 5 fractions per week in breast cancer patients treated with postmastectomy irradiation. Radiother Oncol 1987; 9: 1–11
   PubMed Web of Science ®Google Scholar
• Bentzen SM, Christensen JJ, Overgaard J, Overgaard M. Some methodological problems in estimating radiobiological parameters from clinical data. Alpha/beta ratios and electron RBE for cutaneous reactions in patients treated with postmastectomy radiotherapy. Acta Oncol 1988; 27: 105–16
   PubMed Web of Science ®Google Scholar
• Andreassen, CN, Overgaard, J, Alsner, J, Overgaard, M, Herskind, C, Cesaretti, JA, et al. ATM sequence variants and risk of radiation induced subcutaneous fibrosis after post-mastectomy radiotherapy. In press, Int J Radiat Oncol Biol Phys.
   Google Scholar
• Andreassen CN, Alsner J, Overgaard J, Herskind C, Haviland J, Owen R, et al. 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
   PubMed Web of Science ®Google Scholar
• Gaffney DK, Brohet RM, Lewis CM, Holden JA, Buys SS, Neuhausen SL, et al. Response to radiation therapy and prognosis in breast cancer patients with BRCA1 and BRCA2 mutations. Radiother Oncol 1998; 47: 129–36
   PubMed Web of Science ®Google Scholar
• Pierce LJ, Strawderman M, Narod SA, Oliviotto I, Eisen A, Dawson L, et al. Effect of radiotherapy after breast-conserving treatment in women with breast cancer and germline BRCA1/2 mutations. J Clin Oncol 2000; 18: 3360–9
   PubMed Web of Science ®Google Scholar
• Leong T, Whitty J, Keilar M, Mifsud S, Ramsay J, Birrell G, et al. Mutation analysis of BRCA1 and BRCA2 cancer predisposition genes in radiation hypersensitive cancer patients. Int J Radiat Oncol Biol Phys 2000; 48: 959–65
   PubMed Web of Science ®Google Scholar
• Severin DM, Leong T, Cassidy B, Elsaleh H, Peters L, Venter D, et al. Novel DNA sequence variants in the hHR21 DNA repair gene in radiosensitive cancer patients. Int J Radiat Oncol Biol Phys 2001; 50: 1323–31
   PubMedGoogle Scholar
• Price EA, Bourne SL, Radbourne R, Lawton PA, Lamerdin J, Thompson LH, et al. Rare microsatellite polymorphisms in the DNA repair genes XRCC1, XRCC3 and XRCC5 associated with cancer in patients of varying radiosensitivity. Somat Cell Mol Genet 1997; 23: 237–47
   PubMedGoogle Scholar
• Wood RD, Mitchell M, Sgouros J, Lindahl T. Human DNA repair genes. Science 2001; 291: 1284–9
   PubMed Web of Science ®Google Scholar
• Andreassen CN, Alsner J, Overgaard M, Overgaard J. Prediction of normal tissue radiosensitivity from polymorphisms in candidate genes. Radiother Oncol 2003; 69: 127–35
   PubMed Web of Science ®Google Scholar
• Chang-Claude J, Popanda O, Tan XL, Kroop S, Helmbold I, von Fournier D, et al. 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: 4802–9
   PubMed Web of Science ®Google Scholar
• De Ruyck K, Van Eijkeren M, Claes K, Morthier R, De Paepe A, Vral A, et al. 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 2005; 62: 1140–9
   PubMed Web of Science ®Google Scholar
• Moullan N, Cox DG, Angele S, Romestaing P, Gerard JP, Hall J. Polymorphisms in the DNA repair gene XRCC1, breast cancer risk, and response to radiotherapy. Cancer Epidemiol Biomarkers Prev 2003; 12: 1168–74
   PubMed Web of Science ®Google Scholar
• Kornguth DG, Garden AS, Zheng Y, Dahlstrom KR, Wei Q, Sturgis EM. Gastrostomy in oropharyngeal cancer patients with ERCC4 (XPF) germline variants. Int J Radiat Oncol Biol Phys 2005; 62: 665–71
   PubMed Web of Science ®Google Scholar
• Delanian S, Lefaix JL. The radiation-induced fibroatrophic process: therapeutic perspective via the antioxidant pathway. Radiother Oncol 2004; 73: 119–31
   PubMed Web of Science ®Google Scholar
• Epperly MW, Bray JA, Krager S, Berry LM, Gooding W, Engelhardt JF, et al. Intratracheal injection of adenovirus containing the human MnSOD transgene protects athymic nude mice from irradiation-induced organizing alveolitis. Int J Radiat Oncol Biol Phys 1999; 43: 169–81
   PubMed Web of Science ®Google Scholar
• Epperly MW, Epstein CJ, Travis EL, Greenberger JS. Decreased pulmonary radiation resistance of manganese superoxide dismutase (MnSOD)-deficient mice is corrected by human manganese superoxide dismutase-Plasmid/Liposome (SOD2-PL) intratracheal gene therapy. Radiat Res 2000; 154: 365–74
   PubMed Web of Science ®Google Scholar
• Nagler RM, Reznick AZ, Slavin S, Nagler A. Partial protection of rat parotid glands from irradiation-induced hyposalivation by manganese superoxide dismutase. Arch Oral Biol 2000; 45: 741–7
   PubMedGoogle Scholar
• Lefaix JL, Delanian S, Leplat JJ, Tricaud Y, Martin M, Nimrod A, et al. Successful treatment of radiation-induced fibrosis using Cu/Zn-SOD and Mn-SOD: an experimental study. Int J Radiat Oncol Biol Phys 1996; 35: 305–12
   PubMed Web of Science ®Google Scholar
• Green H, Ross G, Peacock J, Owen R, Yarnold J, Houlston R. Variation in the manganese superoxide dismutase gene (SOD2) is not a major cause of radiotherapy complications in breast cancer patients. Radiother Oncol 2002; 63: 213–6
   PubMed Web of Science ®Google Scholar
• Martin M, Lefaix J, Delanian S. TGF-beta1 and radiation fibrosis: a master switch and a specific therapeutic target?. Int J Radiat Oncol Biol Phys 2000; 47: 277–90
   PubMed Web of Science ®Google Scholar
• Finkelstein JN, Johnston CJ, Baggs R, Rubin P. Early alterations in extracellular matrix and transforming growth factor beta gene expression in mouse lung indicative of late radiation fibrosis. Int J Radiat Oncol Biol Phys 1994; 28: 621–31
   PubMed Web of Science ®Google Scholar
• Randall K, Coggle JE. Expression of transforming growth factor-beta 1 in mouse skin during the acute phase of radiation damage. Int J Radiat Biol 1995; 68: 301–9
   PubMed Web of Science ®Google Scholar
• Randall K, Coggle JE. Long-term expression of transforming growth factor TGF beta 1 in mouse skin after localized beta-irradiation. Int J Radiat Biol 1996; 70: 351–60
   PubMed Web of Science ®Google Scholar
• Flanders KC, Sullivan CD, Fujii M, Sowers A, Anzano MA, Arsbshahi A, et al. Mice lacking Smad3 are protected against cutaneous injury induced by ionizing radiation. Am J Pathol 2002; 160: 1057–68
   PubMed Web of Science ®Google Scholar
• Xavier S, Piek E, Fujii M, Javelaud D, Mauviel A, Flanders KC, et al. Amelioration of radiation-induced fibrosis: inhibition of transforming growth factor-beta signaling by halofuginone. J Biol Chem 2004; 279: 15167–76
   PubMed Web of Science ®Google Scholar
• Haydont V, Mathe D, Bourgier C, et al. Induction of CTGF by TGF-beta1 in normal and radiation enteritis human smooth muscle cells: Smad/Rho balance and therapeutic perspectives. Radiother Oncol 2005; 76: 219–25
   PubMed Web of Science ®Google Scholar
• Quarmby S, Fakhoury H, Levine E, Barber J, Wylie J, Hajeer AH, et al. 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: 137–43
   PubMed Web of Science ®Google Scholar
• Andreassen CN, Sorensen FB, Overgaard J, Alsner J. Optimisation and validation of methods to assess single nucleotide polymorphisms (SNPs) in archival histological material. Radiother Oncol 2004; 72: 351–6
   PubMed Web of Science ®Google Scholar
• Clark AG. The role of haplotypes in candidate gene studies. Genet Epidemiol 2004; 27: 321–33
   PubMed Web of Science ®Google Scholar
• Grau C, Prakash AJ, Jabeen K, Rab KA, Abeyakoon S, Hadjieva T, et al. Radiotherapy with or without mitomycin c in the treatment of locally advanced head and neck cancer: results of the IAEA multicentre randomised trial. Radiother Oncol 2003; 67: 17–26
   PubMed Web of Science ®Google Scholar
• Overgaard J, Hansen HS, Specht L, Overgaard M, Grau C, Andersen E, et al. Five compared with six fractions per week of conventional radiotherapy of squamous-cell carcinoma of head and neck: DAHANCA 6 and 7 randomised controlled trial. Lancet 2003; 362: 933–40
   PubMed Web of Science ®Google Scholar
• Jung H, Beck-Bornholdt HP, Svoboda V, Alberti W, Herrmann T. Quantification of late complications after radiation therapy. Radiother Oncol 2001; 61: 233–46
   PubMed Web of Science ®Google Scholar
• Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 2005; 6: 95–108
   PubMed Web of Science ®Google Scholar
• Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 2003; 33: 177–82
   PubMed Web of Science ®Google Scholar
• Wang WY, Barratt BJ, Clayton DG, Todd JA. Genome-wide association studies: theoretical and practical concerns. Nat Rev Genet 2005; 6: 109–18
   PubMed Web of Science ®Google Scholar
• Pharoah PD, Dunning AM, Ponder BA, Easton DF. Association studies for finding cancer-susceptibility genetic variants. Nat Rev Cancer 2004; 4: 850–60
   PubMed Web of Science ®Google Scholar
• Carlborg O, Haley CS. Epistasis: too often neglected in complex trait studies?. Nat Rev Genet 2004; 5: 618–25
   PubMed Web of Science ®Google Scholar
• Snyder AR, Morgan WF. Gene expression profiling after irradiation: clues to understanding acute and persistent responses?. Cancer Metastasis Rev 2004; 23: 259–68
   PubMed Web of Science ®Google Scholar
• Tsuji AB, Sudo H, Sugyo A, Otsuki M, Miyagishi M, Taira K, et al. A fast, simple method for screening radiation susceptibility genes by RNA interference. Biochem Biophys Res Commun 2005; 333: 1370–7
   PubMedGoogle Scholar
• Correa CR, Cheung VG. Genetic variation in radiation-induced expression phenotypes. Am J Hum Genet 2004; 75: 885–90
   PubMed Web of Science ®Google Scholar
• Tsuji AB, Sugyo A, Ogiu T, Sagara M, Kimura T, Ishikawa A, et al. Fine mapping of radiation susceptibility and gene expression analysis of LEC congenic rat lines. Genomics 2005; 86: 271–9
   PubMedGoogle Scholar
• Spitz MR, Wu X, Mills G. Integrative epidemiology: from risk assessment to outcome prediction. J Clin Oncol 2005; 23: 267–75
   PubMedGoogle Scholar
• MacAuley A, Ladiges WC. Approaches to determine clinical significance of genetic variants. Mutat Res 2005; 573: 205–20
   PubMedGoogle Scholar
• West CM, McKay MJ, Holscher T, et al. Molecular markers predicting radiotherapy response: Report and recommendations from an International Atomic Energy Agency technical meeting. Int J Radiat Oncol Biol Phys 2005; 62: 1264–73
   PubMed Web of Science ®Google Scholar