TP53 R72P and MDM2 SNP309 polymorphisms in modification of childhood acute lymphoblastic leukemia susceptibility

Cancer Genetics and Cytogenetics

Volumn 195, Issue 1, 2009, Pages 31-36

  Do, Thuy N ^a   Ucisik Akkaya, Esma ^a   Davis, Charronne F ^a   Morrison, Brittany A ^a   Dorak, M Tevfik ^a  

^a HUMIGEN LLC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN MDM2; PROTEIN P53;

ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; CHILD CARE; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HLA SYSTEM; HOMOZYGOSITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NEWBORN; ONSET AGE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN INTERACTION; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

CASE-CONTROL STUDIES; DISEASE SUSCEPTIBILITY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT, NEWBORN; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; PROTO-ONCOGENE PROTEINS C-MDM2; TUMOR SUPPRESSOR PROTEIN P53;

EID: 70349863385     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cancergencyto.2009.05.009     Document Type: Article

References (40)

1. Dunning A.M., Healey C.S., Pharoah P.D., Teare M.D., Ponder B.A., and Easton D.F. A systematic review of genetic polymorphisms and breast cancer risk. Cancer Epidemiol Biomarkers Prev 8 (1999) 843-854
2. Fan R., Wu M.T., Miller D., Wain J.C., Kelsey K.T., Wiencke J.K., and Christiani D.C. The p53 codon 72 polymorphism and lung cancer risk. Cancer Epidemiol Biomarkers Prev 9 (2000) 1037-1042
3. Mechanic L.E., Marrogi A.J., Welsh J.A., Bowman E.D., Khan M.A., Enewold L., Zheng Y.L., Chanock S., Shields P.G., and Harris C.C. Polymorphisms in XPD and TP53 and mutation in human lung cancer. Carcinogenesis 26 (2005) 597-604
4. Koushik A., Tranah G.J., Ma J., Stampfer M.J., Sesso H.D., Fuchs C.S., Giovannucci E.L., and Hunter D.J. p53 Arg72Pro polymorphism and risk of colorectal adenoma and cancer. Int J Cancer 119 (2006) 1863-1868
5. van Heemst D., Mooijaart S.P., Beekman M., Schreuder J., de Craen A.J., Brandt B.W., Slagboom P.E., and Westendorp R.G. Long Life Study Group. Variation in the human TP53 gene affects old age survival and cancer mortality. Exp Gerontol 40 (2005) 11-15
6. Bond G.L., Hu W., Bond E.E., Robins H., Lutzker S.G., Arva N.C., Bargonetti J., Bartel F., Taubert H., Wuerl P., Onel K., Yip L., Hwang S.J., Strong L.C., Lozano G., and Levine A.J. A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans. Cell 119 (2004) 591-602
7. Bond G.L., Hirshfield K.M., Kirchhoff T., Alexe G., Bond E.E., Robins H., Bartel F., Taubert H., Wuerl P., Hait W., Toppmeyer D., Offit K., and Levine A.J. MDM2 SNP309 accelerates tumor formation in a gender-specific and hormone-dependent manner. Cancer Res 66 (2006) 5104-5110
8. Zhao L.Y., Liu J., Sidhu G.S., Niu Y., Liu Y., Wang R., and Liao D. Negative regulation of p53 functions by Daxx and the involvement of MDM2. J Biol Chem 279 (2004) 50566-50579
9. Li Q., Wang X., Wu X., Rui Y., Liu W., Wang J., Wang X., Liou Y.C., Ye Z., and Lin S.C. Daxx cooperates with the Axin/HIPK2/p53 complex to induce cell death. Cancer Res 67 (2007) 66-74
10. Herberg J.A., Beck S., and Trowsdale J. TAPASIN, DAXX, RGL2, HKE2 and four new genes (BING 1, 3 to 5) form a dense cluster at the centromeric end of the MHC. J Mol Biol 277 (1998) 839-857
11. Dorak M.T., Lawson T., Machulla H.K., Darke C., Mills K.I., and Burnett A.K. Unravelling an HLA-DR association in childhood acute lymphoblastic leukemia. Blood 94 (1999) 694-700
12. Taylor G.M., Dearden S., Ravetto P., Ayres M., Watson P., Hussain A., Greaves M., Alexander F., and Eden O.B. UKCCS Investigators (United Kingdom Childhood Cancer Study). Genetic susceptibility to childhood common acute lymphoblastic leukaemia is associated with polymorphic peptide-binding pocket profiles in HLA-DPB1*0201. Hum Mol Genet 11 (2002) 1585-1597
13. Taylor G.M., Hussain A., Lightfoot T.J., Birch J.M., Eden T.O., and Greaves M.F. HLA-associated susceptibility to childhood B-cell precursor ALL: definition and role of HLA-DPB1 supertypes. Br J Cancer 98 (2008) 1125-1131
14. Lahiri O., Harris S., Packham G., and Howell M. p53 pathway gene single nucleotide polymorphisms and chronic lymphocytic leukemia. Cancer Genet Cytogenet 179 (2007) 36-44
15. Zenz T., Häbe S., Benner A., Kienle D., Döhner H., and Stilgenbauer S. The MDM2 -309 T/G promoter single nucleotide polymorphism does not alter disease characteristics in chronic lymphocytic leukemia. Haematologica 93 (2008) 1111-1113
16. Gryshchenko I., Hofbauer S., Stoecher M., Daniel P.T., Steurer M., Gaiger A., Eigenberger K., Greil R., and Tinhofer I. MDM2 SNP309 is associated with poor outcome in B-cell chronic lymphocytic leukemia. J Clin Oncol 26 (2008) 2252-2257
17. Swinney R.M., Hsu S.C., Hirschman B.A., Chen T.T., and Tomlinson G.E. MDM2 promoter variation and age of diagnosis of acute lymphoblastic leukemia. Leukemia 19 (2005) 1996-1998
18. Dorak M.T., Burnett A.K., Worwood M., Sproul A.M., and Gibson B.E. The C282Y mutation of HFE is another male-specific risk factor for childhood acute lymphoblastic leukemia. Blood 94 (1999) 3957
19. Dorak M.T., Pearce M.S., Hammal D.M., McNally R.J., and Parker L. Examination of gender effect in birth weight and miscarriage associations with childhood cancer (United Kingdom). Cancer Causes Control 18 (2007) 219-228
20. Kay C., Jeyendran R.S., and Coulam C.B. p53 tumour suppressor gene polymorphism is associated with recurrent implantation failure. Reprod Biomed Online 13 (2006) 492-496
21. Pietrowski D., Bettendorf H., Riener E.K., Keck C., Hefler L.A., Huber J.C., and Tempfer C. Recurrent pregnancy failure is associated with a polymorphism in the p53 tumour suppressor gene. Hum Reprod 20 (2005) 848-851
22. Dorak M.T., Lawson T., Machulla H.K., Mills K.I., and Burnett A.K. Increased heterozygosity for MHC class II lineages in newborn males. Genes Immun 3 (2002) 263-269
23. Desmots F., Russell H.R., Lee Y., Boyd K., and McKinnon P.J. The reaper-binding protein scythe modulates apoptosis and proliferation during mammalian development. Mol Cell Biol 25 (2005) 10329-10337
24. Higuchi M., Singh S., and Aggarwal B.B. Characterization of the apoptotic effects of human tumor necrosis factor: development of highly rapid and specific bioassay for human tumor necrosis factor and lymphotoxin using human target cells. J Immunol Methods 178 (1995) 173-181
25. Rossi D., and Gaidano G. Messengers of cell death: apoptotic signaling in health and disease. Haematologica 88 (2003) 212-218
26. Ongusaha P.P., Kim J.I., Fang L., Wong T.W., Yancopoulos G.D., Aaronson S.A., and Lee S.W. p53 induction and activation of DDR1 kinase counteract p53-mediated apoptosis and influence p53 regulation through a positive feedback loop. EMBO J 22 (2003) 1289-1301
27. Schäfer H., Trauzold A., Sebens T., Deppert W., Fölsch U.R., and Schmidt W.E. The proliferation-associated early response gene p22/PRG1 is a novel p53 target gene. Oncogene 16 (1998) 2479-2487
28. Wu M.X. Roles of the stress-induced gene IEX-1 in regulation of cell death and oncogenesis. Apoptosis 8 (2003) 11-18
29. Harrison C.J. The detection and significance of chromosomal abnormalities in childhood acute lymphoblastic leukaemia. Blood Rev 15 (2001) 49-59
30. Cui J. Hardy-Weinberg equilibrium test in case-control studies. Stata Tech Bull 57 (2000) 17-19. http://www.stata.com [available at]
31. Sasieni P.D. From genotypes to genes: doubling the sample size. Biometrics 53 (1997) 1253-1261
32. Bojesen S.E., and Nordestgaard B.G. The common germline Arg72Pro polymorphism of p53 and increased longevity in humans. Cell Cycle 7 (2008) 158-163
33. Ørsted D.D., Bojesen S.E., Tybjaerg-Hansen A., and Nordestgaard B.G. Tumor suppressor p53 Arg72Pro polymorphism and longevity, cancer survival, and risk of cancer in the general population. J Exp Med 204 (2007) 1295-1301
34. Imyanitov E.N. Gene polymorphisms, apoptotic capacity and cancer risk. Hum Genet 125 (2009) 239-246
35. Gump J., McGavran L., Wei Q., and Hunger S.P. Analysis of TP53 mutations in relapsed childhood acute lymphoblastic leukemia. J Pediatr Hematol Oncol 23 (2001) 416-419
36. Zhou M., Gu L., Abshire T.C., Homans A., Billett A.L., Yeager A.M., and Findley H.W. Incidence and prognostic significance of MDM2 oncoprotein overexpression in relapsed childhood acute lymphoblastic leukemia. Leukemia 14 (2000) 61-67
37. Bougeard G., Baert-Desurmont S., Tournier I., Vasseur S., Martin C., Brugieres L., Chompret A., Bressac-de Paillerets B., Stoppa-Lyonnet D., Bonaiti-Pellie C., and Frebourg T. Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome. J Med Genet 43 (2006) 531-533
38. Firoz E.F., Warycha M., Zakrzewski J., Pollens D., Wang G., Shapiro R., Berman R., Pavlick A., Manga P., Ostrer H., Celebi J.T., Kamino H., Darvishian F., Rolnitzky L., Goldberg J.D., Osman I., and Polsky D. Association of MDM2 SNP309, age of onset, and gender in cutaneous melanoma. Clin Cancer Res 15 (2009) 2573-2580
39. Lerner S.P., and Finch C.E. The major histocompatibility complex and reproductive functions. Endocr Rev 12 (1991) 78-90
40. Kostyu D.D. HLA: fertile territory for developmental genes?. Crit Rev Immunol 14 (1994) 29-59