Possession of ATM Sequence Variants as Predictor for Late Normal Tissue Responses in Breast Cancer Patients Treated With Radiotherapy

International Journal of Radiation Oncology Biology Physics

Volumn 69, Issue 3, 2007, Pages 677-684

  Ho, Alice Y ^a   Fan, Grace ^a   Atencio, David P ^a   Green, Sheryl ^a   Formenti, Silvia C ^b   Haffty, Bruce G ^c   Iyengar, Preetha ^a   Bernstein, Jonine L ^d   Stock, Richard G ^a   Cesaretti, Jamie A ^a   Rosenstein, Barry S ^a,b  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c ROBERT WOOD JOHNSON UNIVERSITY HOSPITAL   (United States)

^d MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

ATM gene; Breast cancer; Genetic variants; Late tissue response; Radiotherapy

Indexed keywords

DNA SEQUENCES; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; ONCOLOGY; RADIATION EFFECTS; RADIOTHERAPY; SURGERY; TUMORS;

BREAST CANCER; CELL CYCLE REGULATION; GENETIC VARIANTS; LATE TISSUE RESPONSE;

GENES;

ASPARAGINE; ASPARTIC ACID; ATM PROTEIN;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BREAST CANCER; CANCER SCREENING; CONFIDENCE INTERVAL; CONTROLLED STUDY; DNA FLANKING REGION; DNA SPLICING; EXON; EXTERNAL BEAM RADIOTHERAPY; FEMALE; FOLLOW UP; GENE IDENTIFICATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN TISSUE; INTRON; LYMPHOCYTE; MAJOR CLINICAL STUDY; MORBIDITY; NUCLEOTIDE SEQUENCE; PREDICTOR VARIABLE; PRIORITY JOURNAL; RADIATION RESPONSE; SKIN; SUBCUTANEOUS TISSUE; TISSUE REACTION;

ADULT; AFRICAN AMERICANS; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; CELL CYCLE PROTEINS; CONFIDENCE INTERVALS; DNA-BINDING PROTEINS; EXONS; FEMALE; HUMANS; INTRONS; MASTECTOMY, SEGMENTAL; MIDDLE AGED; MUTATION, MISSENSE; ODDS RATIO; POLYMORPHISM, GENETIC; PROTEIN-SERINE-THREONINE KINASES; RADIATION INJURIES; RADIOTHERAPY, ADJUVANT; SKIN; TUMOR SUPPRESSOR PROTEINS;

EID: 34548689867     PISSN: 03603016     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijrobp.2007.04.012     Document Type: Article

References (53)

1. Clarke M., Collins R., Darby S., et al. Effects of radiotherapy and of differences in the extent of surgery for early breast cancer on local recurrence and 15-year survival: An overview of the randomised trials. Lancet 366 (2005) 2087-2106
2. Delanian S., and Lefaix J.L. The radiation-induced fibroatrophic process: Therapeutic perspective via the antioxidant pathway. Radiother Oncol 73 (2004) 119-131
3. Gothard L., Cornes P., Earl J., et al. Double-blind placebo-controlled randomised trial of vitamin E and pentoxifylline in patients with chronic arm lymphoedema and fibrosis after surgery and radiotherapy for breast cancer. Radiother Oncol 73 (2004) 133-139
4. Gothard L., Stanton A., MacLaren J., et al. Non-randomised phase II trial of hyperbaric oxygen therapy in patients with chronic arm lymphoedema and tissue fibrosis after radiotherapy for early breast cancer. Radiother Oncol 70 (2004) 217-224
5. Safwat A., Bentzen S.M., Turesson I., et al. Deterministic rather than stochastic factors explain most of the variation in the expression of skin telangiectasia after radiotherapy. Int J Radiat Oncol Biol Phys 52 (2002) 198-204
6. Fernet M., and Hall J. Genetic biomarkers of therapeutic radiation sensitivity. DNA Repair (Amst) 3 (2004) 1237-1243
7. Baumann M., Holscher T., and Begg A.C. Towards genetic prediction of radiation responses: ESTRO's GENEPI project. Radiother Oncol 69 (2003) 121-125
8. Ho A.Y., Atencio D.P., Peters S., et al. Genetic predictors of adverse radiotherapy effects: The Gene-PARE project. Int J Radiat Oncol Biol Phys 65 (2006) 646-655
9. Andreassen C.N., Overgaard J., Alsner J., et al. ATM sequence variants and risk of radiation-induced subcutaneous fibrosis after postmastectomy radiotherapy. Int J Radiat Oncol Biol Phys 64 (2006) 776-783
10. Gotoff S.P., Amirmokri E., and Liebner E.J. Ataxia telangiectasia: Neoplasia, untoward response to x-irradiation, and tuberous sclerosis. Am J Dis Child 114 (1967) 617-625
11. Morgan J.L., Holcomb T.M., and Morrissey R.W. Radiation reaction in ataxia telangiectasia. Am J Dis Child 116 (1968) 557-558
12. Shiloh Y. ATM and related protein kinases: Safeguarding genome integrity. Nat Rev Cancer 3 (2003) 155-168
13. Savitsky K., Bar-Shira A., Gilad S., et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268 (1995) 1749-1753
14. Lavin M.F. ATM: the product of the gene mutated in ataxia-telangiectasia. Int J Biochem Cell Biol 31 (1999) 735-740
15. McKinnon P.J. ATM and ataxia telangiectasia. EMBO Rep 5 (2004) 772-776
16. DahlBerg W.K., and Little J.B. Response of dermal fibroblast cultures from patients with unusually severe responses to radiotherapy and from ataxia telangiectasia heterozygotes to fractionated radiation. Clin Cancer Res 1 (1995) 785-790
17. Cole J., Arlett C.F., Green M.H., et al. Comparative human cellular radiosensitivity: II. The survival following gamma-irradiation of unstimulated (G0) T-lymphocytes, T-lymphocyte lines, lymphoblastoid cell lines and fibroblasts from normal donors, from ataxia-telangiectasia patients and from ataxia-telangiectasia heterozygotes. Int J Radiat Biol 54 (1988) 929-943
18. Pandita T.K., and Hittelman W.N. Increased initial levels of chromosome damage and heterogeneous chromosome repair in ataxia telangiectasia heterozygote cells. Mutat Res 310 (1994) 1-13
19. 2 chromosomal radiosensitivity of ataxia-telangiectasia heterozygotes. Cancer Genet Cytogenet 14 (1985) 163-168
20. 2 phase x irradiation, a marker of the ataxia-telangiectasia gene. J Natl Cancer Inst 82 (1990) 1050-1054
21. Paterson M.C., MacFarlane S.J., Gentner N.E., et al. Cellular hypersensitivity to chronic gamma-radiation in cultured fibroblasts from ataxia-telangiectasia heterozygotes. Kroc Found Ser 19 (1985) 73-87
22. Weeks D.E., Paterson M.C., Lange K., et al. Assessment of chronic gamma radiosensitivity as an in vitro assay for heterozygote identification of ataxia-telangiectasia. Radiat Res 128 (1991) 90-99
23. Iannuzzi C.M., Atencio D.P., Green S., et al. ATM mutations in female breast cancer patients predict for an increase in radiation-induced late effects. Int J Radiat Oncol Biol Phys 52 (2002) 606-613
24. Cesaretti J.A., Stock R.G., Lehrer S., et al. 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
25. Angele S., Romestaing P., Moullan N., et al. ATM haplotypes and cellular response to DNA damage: Association with breast cancer risk and clinical radiosensitivity. Cancer Res 63 (2003) 8717-8725
26. Andreassen C.N., Alsner J., Overgaard J., et al. 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
27. Hall E.J., Schiff P.B., Hanks G.E., 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 4 (1998) 385-389
28. Bremer M., Klopper K., Yamini P., et al. Clinical radiosensitivity in breast cancer patients carrying pathogenic ATM gene mutations: No observation of increased radiation-induced acute or late effects. Radiother Oncol 69 (2003) 155-160
29. Holden C. Race and medicine. Science 302 (2003) 594-596
30. American Joint Committee on Cancer Staging. AJCC cancer staging manual. Fifth edition (1997), Lippincott-Raven Publishers, Philadelphia
31. Cox J.D., Stetz J., and Pajak T.F. Toxicity criteria of the Radiation Therapy Oncology Group (RTOG) and the European Organization for Research and Treatment of Cancer (EORTC). Int J Radiat Oncol Biol Phys 31 (1995) 1341-1346
32. Bland J.M., and Altman D.G. Statistics notes. The odds ratio. BMJ 320 (2000) 1468
33. A haplotype map of the human genome. Nature 437 (2005) 1299-1320
34. Pe'er I., de Bakker P.I., Maller J., et al. Evaluating and improving power in whole-genome association studies using fixed marker sets. Nat Genet 38 (2006) 663-667
35. de Bakker P.I., Yelensky R., Pe'er I., et al. Efficiency and power in genetic association studies. Nat Genet 37 (2005) 1217-1223
36. Newton-Cheh C., and Hirschhorn J.N. Genetic association studies of complex traits: Design and analysis issues. Mutat Res 573 (2005) 54-69
37. Klein R.J., Zeiss C., Chew E.Y., et al. Complement factor H polymorphism in age-related macular degeneration. Science 308 (2005) 385-389
38. Begovich A.B., Carlton V.E., Honigberg L.A., et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 75 (2004) 330-337
39. Duerr R.H., Taylor K.D., Brant S.R., et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 314 (2006) 1461-1463
40. Smyth D.J., Cooper J.D., Bailey R., et al. A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. Nat Genet 38 (2006) 617-619
41. Herbert A., Gerry N.P., McQueen M.B., et al. A common genetic variant is associated with adult and childhood obesity. Science 312 (2006) 279-283
42. Concannon P. Ataxia telangiectasia mutated. http://chromium.liacs.nl/lovd/index.php?select_db=ATM. Accessed May 1, 2007.
43. Sommer S.S., Jiang Z., Feng J., et al. ATM missense mutations are frequent in patients with breast cancer. Cancer Genet Cytogenet 145 (2003) 115-120
44. Bretsky P., Haiman C.A., Gilad S., et al. The relationship between twenty missense ATM variants and breast cancer risk: The Multiethnic Cohort. Cancer Epidemiol Biomarkers Prev 12 (2003) 733-738
45. Thorstenson Y.R., Roxas A., Kroiss R., et al. Contributions of ATM mutations to familial breast and ovarian cancer. Cancer Res 63 (2003) 3325-3333
46. Buzin C.H., Gatti R.A., Nguyen V.Q., et al. Comprehensive scanning of the ATM gene with DOVAM-S. Hum Mutat 21 (2003) 123-131
47. Offit K., Gilad S., Paglin S., et al. Rare variants of ATM and risk for Hodgkin's disease and radiation-associated breast cancers. Clin Cancer Res 8 (2002) 3813-3819
48. Renwick A., Thompson D., Seal S., et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 38 (2006) 873-875
49. Andreassen C.N., Alsner J., Overgaard M., et al. 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
50. Andreassen C.N., Alsner J., Overgaard M., et al. Prediction of normal tissue radiosensitivity from polymorphisms in candidate genes. Radiother Oncol 69 (2003) 127-135
51. Quarmby S., Fakhoury H., Levine E., 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 79 (2003) 137-143
52. Moullan N., Cox D.G., Angele S., et al. Polymorphisms in the DNA repair gene XRCC1, breast cancer risk, and response to radiotherapy. Cancer Epidemiol Biomarkers Prev 12 (2003) 1168-1174
53. Severin D.M., Leong T., Cassidy B., et al. Novel DNA sequence variants in the hHR21 DNA repair gene in radiosensitive cancer patients. Int J Radiat Oncol Biol Phys 50 (2001) 1323-1331