A minimally invasive assay for individual assessment of the ATM/CHEK2/p53 pathway activity

Cell Cycle

Volumn 10, Issue 7, 2011, Pages 1152-1161

  Kabacik, Sylwia ^a   Ortega Molina, Ana ^b   Efeyan, Alejo ^b   Finnon, Paul ^a   Bouffler, Simon ^a   Serrano, Manuel ^b   Badie, Christophe ^a  

^a PUBLIC HEALTH ENGLAND   (United Kingdom)

^b Centro Nacional de Investigaciones Oncológicas   (Spain)

Author keywords

ATM; ATM CHEK2 Tp53 pathway; Blood; Cancer; Gene expression; Lymphocyte; p53; Radiation; Susceptibility

Indexed keywords

ARF PROTEIN; ATM PROTEIN; CHECKPOINT KINASE 2; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; PROTEIN P21; PROTEIN P53; PUMA PROTEIN;

APOPTOSIS; ARTICLE; ASSAY; ATAXIA TELANGIECTASIA; BLOOD; BLOOD SAMPLING; CANCER INCIDENCE; CARCINOGENESIS; CELL CYCLE ARREST; DNA DAMAGE; FAMILIAL CANCER; FEMALE; GENE DOSAGE; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSCRIPTION; GENOMIC INSTABILITY; HUMAN; IONIZING RADIATION; LEUKOCYTE; MALE; MOUSE; NONHUMAN; REAL TIME POLYMERASE CHAIN REACTION; T LYMPHOCYTE; UPREGULATION;

ATAXIA TELANGIECTASIA; MUS;

EID: 79953667089     PISSN: 15384101     EISSN: 15514005     Source Type: Journal    
DOI: 10.4161/cc.10.7.15231     Document Type: Article

References (52)

1. Ward JF. The complexity of DNA damage: Relevance to biological consequences. Int J Radiat Biol 1994; 66:427-32. (Pubitemid 24369143)
2. Jackson SP, Bartek J. The DNA-damage response in human biology and disease. Nature 2009; 461:1071-8.
3. Lee JH, Paull TT. ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex. Science 2005; 308:551-4. (Pubitemid 40570585)
4. Bakkenist CJ, Kastan MB. DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation. Nature 2003; 421:499-506. (Pubitemid 36168436)
5. Shiloh Y. ATM and related protein kinases: Safe-guarding genome integrity. Nat Rev Cancer 2003; 3:155-68. (Pubitemid 37328868)
6. Canman CE, Lim DS, Cimprich KA, Taya Y, Tamai K, Sakaguchi K, et al. Activation of the ATM kinase by ionizing radiation and phosphorylation of p53. Science 1998; 281:1677-9. (Pubitemid 28435584)
7. Lane DP. Cancer. p53, guardian of the genome. Nature 1992; 358:15-6.
8. Brugarolas J, Chandrasekaran C, Gordon JI, Beach D, Jacks T, Hannon GJ. Radiation-induced cell cycle arrest compromized by p21 deficiency. Nature 1995; 377:552-7.
9. Yu J, Wang Z, Kinzler KW, Vogelstein B, Zhang L. PUMA mediates the apoptotic response to p53 in colorectal cancer cells. Proc Natl Acad Sci USA 2003; 100:1931-6. (Pubitemid 36254551)
10. Lombard DB, Chua KF, Mostoslavsky R, Franco S, Gostissa M, Alt FW. DNA repair, genome stability and aging. Cell 2005; 120:497-512. (Pubitemid 40269764)
11. Bartkova J, Horejsí Z, Koed K, Krämer A, Tort F, Zieger K, et al. DNA damage response as a candidate anti-cancer barrier in early human tumorigenesis. Nature 2005; 434:864-70. (Pubitemid 40558993)
12. Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, Shannon KE, et al. Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 1999; 286:2528-31.
13. Zambetti GP. The p53 mutation "gradient effect" and its clinical implications. J Cell Physiol 2007; 213:370-3. (Pubitemid 47509715)
14. Pietsch EC, Humbey O, Murphy ME. Polymorphisms in the p53 pathway. Oncogene 2006; 25:1602-11.
15. Bond GL, Hu W, Bond EE, Robins H, Lutzker SG, Arva NC, et al. A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans. Cell 2004; 119:591-602. (Pubitemid 39535748)
16. Slee EA, Benassi B, Goldin R, Zhong S, Ratnayaka I, Blandino G, Lu X. Phosphorylation of Ser312 contributes to tumor suppression by p53 in vivo. Proc Natl Acad Sci USA 2010; 107:19479-84.
17. Schadt EE, Monks SA, Drake TA, Lusis AJ, Che N, Colinayo V, et al. Genetics of gene expression surveyed in maize, mouse and man. Nature 2003; 422:297-302. (Pubitemid 36378355)
18. Badie C, Dziwura S, Raffy C, Tsigani T, Alsbeih G, Moody J, et al. Aberrant CDKN1A transcriptional response associates with abnormal sensitivity to radiation treatment. Br J Cancer 2008; 98:1845-51. (Pubitemid 351748846)
19. García-Cao I, García-Cao M, Martín-Caballero J, Criado LM, Klatt P, Flores JM, et al. "Super p53" mice exhibit enhanced DNA damage response, are tumor resistant and age normally. EMBO J 2002; 21:6225-35.
20. Waf1/Cip1 in thymic lymphoma. Oncogene 2006; 25:4128-32.
21. Matheu A, Maraver A, Klatt P, Flores I, Garcia-Cao I, Borras C, et al. Delayed ageing through damage protection by the Arf/p53 pathway. Nature 2007; 448:375-9. (Pubitemid 47080339)
22. Kabacik S, Mackay A, Tamber N, Manning G, Finnon P, Paillier F, et al. Gene expression following ionizing radiation: Identification of biomarkers for dose estimation and prediction of individual response. Int J Radiat Biol 2011; 87:115-29.
23. Ahmed M, Rahman N. ATM and breast cancer susceptibility. Oncogene 2006; 25:5906-11. (Pubitemid 44453446)
24. Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, et al. ATM mutations that cause ataxiatelangiectasia are breast cancer susceptibility alleles. Nat Genet 2006; 38:873-5. (Pubitemid 44141653)
25. Bernstein JL, Haile RW, Stovall M, Boice JD Jr, Shore RE, Langholz B, et al. WECARE Study Collaborative Group. Radiation exposure, the ATM Gene and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study. J Natl Cancer Inst 2010; 102:475-83.
26. Sablina AA, Budanov AV, Ilyinskaya GV, et al. The antioxidant function of the p53 tumor suppressor. Nat Med 2005; 11:1306-13. (Pubitemid 41752911)
27. Christophorou MA, Ringshausen I, Finch AJ, Swigart LB, Evan GI. The pathological response to DNA damage does not contribute to p53-mediated tumor suppression. Nature 2006; 443:214-7. (Pubitemid 44387609)
28. Efeyan A, Serrano M. p53: Guardian of the genome and policeman of the oncogenes. Cell Cycle 2007; 6:1006-10. (Pubitemid 46708570)
29. Riley T, Sontag E, Chen P, Levine A, et al. Transcriptional control of human p53-regulated genes. Nature Rev Mol Cell Biol 2008; 9:402-12.
30. Gorgoulis VG, Vassiliou LV, Karakaidos P, Zacharatos P, Kotsinas A, Liloglou T, et al. Activation of the DNA damage checkpoint and genomic instability in human precancerous lesions. Nature 2005; 434:907-13. (Pubitemid 40559004)
31. Monti P, Ciribilli Y, Jordan J, Menichini P, Umbach DM, Resnick MA, et al. Transcriptional functionality of germ line p53 mutants influences cancer phenotype. Clin Cancer Res 2007; 13:3789-95. (Pubitemid 47037583)
32. Jordan JJ, Inga A, Conway K, Edmiston S, Carey LA, Wu L, et al. Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. Mol Cancer Res 2010; 8:701-6.
33. Jeong BS, Hu W, Belyi V, Rabadan R, Levine AJ. Differential levels of transcription of p53-regulated genes by the arginine/proline polymorphism: p53 with arginine at codon 72 favors apoptosis. FASEB J 2010; 24:1347-53.
34. Fletcher O, Johnson N, Dos Santos Silva I, Kilpivaara O, Aittomäki K, Blomqvist C, et al. Family history, genetic testing and clinical risk prediction: Pooled analysis of CHEK2 1100delC in 1,828 bilateral breast cancers and 7,030 controls. Cancer Epidemiol Biomarkers Prev 2009; 18:230-4.
35. Verhagen MM, Abdo WF, Willemsen MA, Hogervorst FB, Smeets DF, Hiel JA, et al. Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology 2009; 73:430-7.
36. Seemanová E, Jarolim P, Seeman P, Varon R, Digweed M, Swift M, et al. Cancer risk of heterozygotes with the NBN founder mutation. J Natl Cancer Inst 2007; 99:1875-80. (Pubitemid 351767197)
37. di Masi A, Antoccia A. NBS1 Heterozygosity and Cancer Risk. Curr Genomics 2008; 9:275-81.
38. Fernet M, Gribaa M, Salih MA, Seidahmed MZ, Hall J, Koenig M. Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Hum Mol Genet 2005; 14:307-18.
39. Bougeard G, Baert-Desurmont S, Tournier I, Vasseur S, Martin C, Brugieres L, et al. Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumor onset in Li-Fraumeni syndrome. J Med Genet 2006; 43:531-3. (Pubitemid 43927330)
40. He L, He X, Lim LP, de Stanchina E, Xuan Z, Liang Y, et al. A microRNA component of the p53 tumor suppressor network. Nature 2007; 447:1130-4. (Pubitemid 47014436)
41. Le MT, Teh C, Shyh-Chang N, Xie H, Zhou B, Korzh V, et al. MicroRNA-125b is a novel negative regulator of p53. Genes Dev 2009; 23:862-76.
42. Herrera-Merchan A, Cerrato C, Luengo G, Dominguez O, Piris MA, Serrano M, Gonzalez S. miR-33-mediated downregulation of p53 controls hematopoietic stem cell self-renewal. Cell Cycle 2010; 9:3277-85.
43. Hu H, Du L, Nagabayashi G, Seeger RC, Gatti RA. ATM is downregulated by N-Myc-regulated microRNA-421. Proc Natl Acad Sci USA 2010; 107:1506-11.
44. Bourdon JC, Fernandes K, Murray-Zmijewski F, Liu G, Diot A, Xirodimas DP, et al. p53 isoforms can regulate p53 transcriptional activity. Genes Dev 2005; 19:2122-37. (Pubitemid 41330315)
45. Murray-Zmijewski F, Slee EA, Lu X. A complex barcode underlies the heterogeneous response of p53 to stress. Nat Rev Mol Cell Biol 2008; 9:702-12.
46. Feng Z, Hu W, Teresky AK, Hernando E, Cordon- Cardo C, Levine AJ. Declining p53 function in the aging process: a possible mechanism for the increased tumor incidence in older populations. Proc Natl Acad Sci USA 2007; 104:16633-8. (Pubitemid 350211068)
47. Jacks T, Remington L, Williams BO, Schmitt EM, Halachmi S, Bronson RT, et al. Tumor spectrum analysis in p53-mutant mice. Curr Biol 1994; 4:1-7.
48. Barlow C, Hirotsune S, Paylor R, Liyanage M, Eckhaus M, Collins F, et al. Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell 1996; 86:159-71. (Pubitemid 26259926)
49. ARF. Cell 1997; 91:649-59.
50. Hirao A, Kong YY, Matsuoka S, Wakeham A, Ruland J, Yoshida H, et al. DNA damage-induced activation of p53 by the checkpoint kinase Chk2. Science 2000; 287:1824-7.
51. Finnon P, Robertson N, Dziwura S, Raffy C, Zhang W, Ainsbury L, et al. Evidence for significant heritability of apoptotic and cell cycle responses to ionizing radiation. Hum Genet 2008; 123:485-93.
52. O'Donovan MR, Freemantle MR, Hull G, Bell DA, Arlett CF, Cole J. Extended-term cultures of human T-lymphocytes: A practical alternative to primary human lymphocytes for use in genotoxicity testing. Mutagenesis 1995; 10:189-201.