Acta Med. 2011, 54: 111-116

https://doi.org/10.14712/18059694.2016.31

Analysis of D1853N ATM Polymorphism in Radiosensitive Patients with Cervical Carcinoma

Martin Beráneka, Monika Drastíkováa, Simona Paulíkováb, Igor Sirákb, Milan Vošmikb, Jiří Peterab

aCharles University in Prague, Faculty of Medicine and University Hospital Hradec Králové, Institute of Clinical Biochemistry and Diagnostics, Czech Republic
bCharles University in Prague, Faculty of Medicine and University Hospital Hradec Králové, Department of Clinical Oncology, Czech Republic

Received October 19, 2010
Accepted April 25, 2011

References

1. Andreassen CN, Overgaard J, Alsner J. ATM sequence variants and risk of radiation- induced subcutaneous fibrosis after post-mastectomy radiotherapy. Int J Radiat Oncol Biol Phys 2006; 64:776–83. <https://doi.org/10.1016/j.ijrobp.2005.09.014>
2. Angele S, Falconer A, Edwards SM, et al. ATM polymorphisms as risk factors for prostate cancer development. Brit J Cancer 2004; 91:783–7. <https://doi.org/10.1038/sj.bjc.6602007> <PubMed>
3. 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 2003; 63:8717–25.
4. Bernstein JL, Teraoka S, Haile RW, et al. Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer. Hum Mutat 2003; 542–50. <https://doi.org/10.1002/humu.10206>
5. Bretsky, P., Haiman CA, Gilad S, et al. The relationship between twenty missense ATM variants and breast cancer risk: the multiethnic cohort. Cancer Epidemiol Biomarkers Prev 2003; 12:733–8.
6. Bullrich F, Rasio D, Kitada S, et al. ATM mutations in B-cell chronic lymphocytic leukemia. Cancer Res 1999; 59:24–7.
7. Cavaciuti E., Lauge A., Janin N., et al. Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families. Genes C
8. Cesaretti JA, Stock RG, Lehner S, Atencio DA, Bernstein JL, Stone NN. 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. <https://doi.org/10.1016/j.ijrobp.2004.09.031>
9. Cortez D, Wang Y, Qin J, Elledge SJ. Requirement of ATM-dependent phosphorylation of BRCA1 in the DNA damage response to double-strand breaks. Science 1999; 286:1162–6. <https://doi.org/10.1126/science.286.5442.1162>
10. Dombernowsky SL, Weischer M, Allin KH, Bojesen SE, Tybjaerg-Hansen A, Nordestgaard BG. Risk of cancer by ATM missense mutations in the general population. J Clin Oncol 2008; 26:3057–62. <https://doi.org/10.1200/JCO.2007.14.6613>
11. Dork T, Bendix R, Bremer M, et al. Spectrum of ATM gene mutations in a hospitalbased series of unselected breast cancer patients. Cancer Res 2001; 61:7608–15.
12. Foroud T, Wei S, Ziv Y, et al. Localization of an ataxia-telangiectasia locus to a 3-cM interval on chromosome 11q23: Linkage analysis of 111 families by an international consortium. Am J Human Genet 1991; 49:1263–79.
13. Gao LB, Pan XM, Sun H, et al. The association between ATM D1853N polymorphism and breast cancer susceptibility: a meta-analysis. J Exp Clin Cancer Res 2010; 29:117. <https://doi.org/10.1186/1756-9966-29-117> <PubMed>
14. Gonzalez-Hormazabal P, Bravo T, Blanco R, et al. Association of common ATM variants with familial breast cancer in a Southern American population. BMC Cancer 2008; 8:117. <https://doi.org/10.1186/1471-2407-8-117> <PubMed>
15. Heikkinen K, Rapakko K, Karppinen SM, Erkko H, Nieminen P, Winqvist R. Association of common ATM polymorphism with bilateral breast cancer. Int J Cancer 2005; 116:69–72. <https://doi.org/10.1002/ijc.20996>
16. Kim JH, Kim H, Lee KY, et al. Genetic polymorphisms of ataxia telangiectasia mutated affect lung cancer risk. Hum Mol Genet 2006; 15:1181–6. <https://doi.org/10.1093/hmg/ddl033>
17. Li D, Suzuki H, Liu B, et al. DNA repair gene polymorphisms and risk of pancreatic cancer. Clin Cancer Res 2009; 15:740–6. <https://doi.org/10.1158/1078-0432.CCR-08-1607> <PubMed>
18. Maillet P, Chappuis PO, Vaudan G, et al. A polymorphism in the ATM gene modulates the penetrance of hereditary non-polyposis colorectal cancer. Int J Cancer 2000; 88:928–31. <https://doi.org/10.1002/1097-0215(20001215)88:6<928::AID-IJC14>3.0.CO;2-P>
19. Maillet P, Vaudan G, Chappuis P, Sappino AP. PCR-mediated detection of a polymorphism in the ATM gene. Moll Cell Probes 1999; 13:67–9. <https://doi.org/10.1006/mcpr.1998.0219>
20. Sandoval N, Platzer M, Rosenthal A, et al. Characterization of ATM gene mutations in 66 ataxia telangiectasia families. Hum Mol Genet 1999; 8:69–79. <https://doi.org/10.1093/hmg/8.1.69>
21. Savinsky K, Bar-Shira A, Gilad S, et al. A single ataxia-telangiectasia gene with a product similar to PI-3 kinase. Science 1995; 268:1749–53. <https://doi.org/10.1126/science.7792600>
22. Shiloh Y. ATM and related protein kinases: safeguarding genome integrity. Nat Rev Cancer 2003; 3:155–68. <https://doi.org/10.1038/nrc1011>
23. Stredrick DL, Garcia-Closas M, Pineda MA, et al. The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer. Hum Mutat 2006; 27: 538–44. <https://doi.org/10.1002/humu.20323> <PubMed>
24. Swift M, Reitnauer PJ, Morrell D, Chase CL. Breast and other cancers in families with ataxia-telangiectasia. New Engl J Med 1987; 316:1289–94. <https://doi.org/10.1056/NEJM198705213162101>
25. Teraoka SN, Telatar M, Becker-Catania S, et al. Splicing defects in the ataxiatelangiectasia gene, ATM: Underlying mutations and consequences. Am J Hum Genet 1999; 64:1617–31. <https://doi.org/10.1086/302418> <PubMed>
26. Thorstenson YR, Roxas A, Kroiss R, et al. Contributions of ATM mutations to familial breast and ovarian cancer. Cancer Res 2003; 63:3325–33.
27. Tichý A, Vávrová J, Pejchal J, Řezáčová M. Ataxia-telangiectasia mutated kinase (ATM) as a central regulator of radiation-induced DNA damage response. Acta Medica 2010; 53:13–7.
28. Tommiska J, Jansen L, Kilpivaara O, et al. ATM variants and cancer risk in breast cancer patients from Southern Finland. BMC Cancer 2006; 6:209. <https://doi.org/10.1186/1471-2407-6-209> <PubMed>
29. Uhrhammer N, Bay J, Pernin D, et al. Loss of heterozygosity at the ATM locus in colorectal carcinoma. Oncol Rep 1999; 6:655–8.
30. Vořechovský I, Luo L, Dyer MJS, et al. Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia. Nature Genet 1997; 17:96–9. <https://doi.org/10.1038/ng0997-96>
31. Zhang L, Jia G, Li WM, et al. Alteration of the ATM gene occurs in gastric cancer cell lines and primary tumors associated with cellular response to DNA damage. Mutat Res 2004; 557:41–51. <https://doi.org/10.1016/j.mrgentox.2003.09.012>
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