Influence of MDM2 SNP309 and SNP285 status on the risk of cancer in the breast, prostate, lung and colon

International Journal of Cancer

Volumn 137, Issue 1, 2015, Pages 96-103

  Gansmo, Liv B ^a,b   Knappskog, Stian ^a,b   Hveem, Kristian ^c   Vatten, Lars ^c   Lønning, Per E ^a,b  

^a UNIVERSITY OF BERGEN   (Norway)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

Author keywords

MDM2; SNP309; SNP309 cancer risk

Indexed keywords

PROTEIN P53; MDM2 PROTEIN, HUMAN; PROTEIN MDM2;

ARTICLE; BREAST CANCER; CASE CONTROL STUDY; COLON CANCER; CONTROLLED STUDY; ENZYME INACTIVATION; EUROPEAN; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC LINKAGE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTRON; LUNG CANCER; MAJOR CLINICAL STUDY; MALE; MDM2 GENE; NORWAY; ONCOGENE; PRIORITY JOURNAL; PROMOTER REGION; PROSTATE CANCER; RISK ASSESSMENT; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; TISSUE SPECIFICITY; ANTIBODY SPECIFICITY; BREAST TUMOR; COLON TUMOR; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; LUNG NEOPLASMS; PROSTATE TUMOR;

BREAST NEOPLASMS; CASE-CONTROL STUDIES; COLONIC NEOPLASMS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LUNG NEOPLASMS; MALE; ORGAN SPECIFICITY; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; PROSTATIC NEOPLASMS; PROTO-ONCOGENE PROTEINS C-MDM2; SEX FACTORS;

EID: 84930413360     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.29358     Document Type: Article

References (45)

1. Haupt Y, Maya R, Kazaz A, Oren M,. Mdm2 promotes the rapid degradation of p53. Nature 1997; 387: 296-9.
2. Honda R, Tanaka H, Yasuda H,. Oncoprotein MDM2 is a ubiquitin ligase E3 for tumor suppressor p53. FEBS Lett 1997; 420: 25-7.
3. Momand J, Zambetti GP, Olson DC, George D, Levine AJ,. The mdm-2 oncogene product forms a complex with the p53 protein and inhibits p53-mediated transactivation. Cell 1992; 69: 1237-45.
4. Oliner JD, Pietenpol JA, Thiagalingam S, Gyuris J, Kinzler KW, Vogelstein B,. Oncoprotein MDM2 conceals the activation domain of tumour suppressor p53. Nature 1993; 362: 857-60.
5. Gajjar M, Candeias MM, Malbert-Colas L, Mazars A, Fujita J, Olivares-Illana V, Fahraeus R,. The p53 mRNA-Mdm2 interaction controls Mdm2 nuclear trafficking and is required for p53 activation following DNA damage. Cancer Cell 2012; 21: 25-35.
6. Zauberman A, Flusberg D, Haupt Y, Barak Y, Oren M,. A functional p53-responsive intronic promoter is contained within the human mdm2 gene. Nucleic Acids Res 1995; 23: 2584-92.
7. Momand J, Jung D, Wilczynski S, Niland J,. The MDM2 gene amplification database. Nucleic Acids Res 1998; 26: 3453-9.
8. Oliner JD, Kinzler KW, Meltzer PS, George DL, Vogelstein B,. Amplification of a gene encoding a p53-associated protein in human sarcomas. Nature 1992; 358: 80-3.
9. Bartel F, Meye A, Wurl P, Kappler M, Bache M, Lautenschlager C, Grunbaum U, Schmidt H, Taubert H,. Amplification of the MDM2 gene, but not expression of splice variants of MDM2 MRNA, is associated with prognosis in soft tissue sarcoma. Int J Cancer 2001; 95: 168-75.
10. Bond GL, Hu W, Bond EE, Robins H, Lutzker SG, Arva NC, Bargonetti J, Bartel F, Taubert H, Wuerl P, Onel K, Yip L, 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.
11. Bond GL, Hirshfield KM, Kirchhoff T, Alexe G, Bond EE, Robins H, Bartel F, Taubert H, Wuerl P, Hait W, Toppmeyer D, Offit K, et al. MDM2 SNP309 accelerates tumor formation in a gender-specific and hormone-dependent manner. Cancer Res 2006; 66: 5104-10.
12. Bond GL, Menin C, Bertorelle R, Alhopuro P, Aaltonen LA, Levine AJ,. MDM2 SNP309 accelerates colorectal tumour formation in women. J Med Genet 2006; 43: 950-2.
13. Economopoulos KP, Sergentanis TN,. Differential effects of MDM2 SNP309 polymorphism on breast cancer risk along with race: a meta-analysis. Breast Cancer Res Treatment 2010; 120: 211-6.
14. Hu Z, Jin G, Wang L, Chen F, Wang X, Shen H,. MDM2 promoter polymorphism SNP309 contributes to tumor susceptibility: evidence from 21 case-control studies. Cancer Epidemiol Biomarkers Prev 2007; 16: 2717-23.
15. Wilkening S, Bermejo JL, Hemminki K,. MDM2 SNP309 and cancer risk: a combined analysis. Carcinogenesis 2007; 28: 2262-7.
16. Knappskog S, Bjornslett M, Myklebust LM, et al. The MDM2 promoter SNP285C/309G haplotype diminishes Sp1 transcription factor binding and reduces risk for breast and ovarian cancer in Caucasians. Cancer Cell 2011; 19: 273-82.
17. Paulin F, O'Neill M, McGregor G, et al. MDM2 SNP309 is associated with high grade node positive breast tumours and is in linkage disequilibrium with a novel MDM2 intron 1 polymorphism. BMC Cancer 2008; 8: 281.
18. Wu DW, Lee MC, Wang J, et al. DDX3 loss by p53 inactivation promotes tumor malignancy via the MDM2/Slug/E-cadherin pathway and poor patient outcome in non-small-cell lung cancer. Oncogene 2014; 33: 1515-26.
19. Knappskog S, Trovik J, Marcickiewicz J, et al. SNP285C modulates oestrogen receptor/Sp1 binding to the MDM2 promoter and reduces the risk of endometrial but not prostatic cancer. Eur J Cancer 2012; 48: 1988-96.
20. Piotrowski P, Lianeri M, Rubis B, et al. Murine double minute clone 2,309T/G and 285G/C promoter single nucleotide polymorphism as a risk factor for breast cancer: a Polish experience. Int J Biol Markers 2012; 27: e105-10.
21. Ryan BM, Calhoun KM, Pine SR, et al. MDM2 SNP285 does not antagonize the effect of SNP309 in lung cancer. Int J Cancer 2012; 131: 2710-6.
22. Bjornslett M, Knappskog S, Lonning PE, Dorum A,. Effect of the MDM2 promoter polymorphisms SNP309T>G and SNP285G>C on the risk of ovarian cancer in BRCA1 mutation carriers. BMC Cancer 2012; 12: 454.
23. Genomes Project C, Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature 2012; 491: 56-65.
24. Knappskog S, Gansmo LB, Dibirova K, et al. Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649). Oncotarget 2014; 5: 8223-34.
25. Porter W, Saville B, Hoivik D, Safe S,. Functional Synergy between the transcription factor Sp1 and the estrogen receptor. Mol Endocrinol 1997; 11: 1569-80.
26. Saville B, Wormke M, Wang F, et al. Ligand-, cell-, and estrogen receptor subtype (α/β)-dependent activation at GC-rich (Sp1) promoter elements. J Biol Chem 2000; 275: 5379-87.
27. Naess O, Sogaard AJ, Arnesen E, et al. Cohort profile: cohort of Norway (CONOR). Int J Epidemiol 2008; 37: 481-5.
28. Schmidt MK, Reincke S, Broeks A, et al. Do MDM2 SNP309 and TP53 R72P Interact in breast cancer susceptibility? A large pooled series from the breast cancer association consortium. Cancer Res 2007; 67: 9584-90.
29. Bond GL, Levine AJ,. A single nucleotide polymorphism in the p53 pathway interacts with gender, environmental stresses and tumor genetics to influence cancer in humans. Oncogene 2007; 26: 1317-23.
30. Bai J, Dai J, Yu H, et al. Cigarette smoking, MDM2 SNP309, gene-environment interactions, and lung cancer risk: a meta-analysis. J Toxicol Environ Health Part A 2009; 72: 677-82.
31. Liu G, Jiang D, Shen S, Yu L,. Murine double minute 2 promoter SNP309 polymorphism and prostate cancer risk: a meta-analysis. Int J Urol 2012; 19: 914-20.
32. Wan Y, Wu W, Yin Z, et al. MDM2 SNP309, gene-gene interaction, and tumor susceptibility: an updated meta-analysis. BMC Cancer 2011; 11: 208.
33. Zhao E, Cui D, Yuan L, Lu W,. MDM2 SNP309 polymorphism and breast cancer risk: a meta-analysis. Mol Biol Rep 2012; 39: 3471-7.
34. Gui XH, Qiu LX, Zhang HF, et al. MDM2 309 T/G polymorphism is associated with lung cancer risk among Asians. Eur J Cancer 2009; 45: 2023-6.
35. Albuquerque C, Bakker ER, van Veelen W, Smits R,. Colorectal cancers choosing sides. Biochim Biophys Acta 2011; 1816: 219-31.
36. Fu Q, Zhang G, Chen H, et al. Current evidence on the relationship between SNP309 polymorphism in the MDM2 gene and colorectal cancer risk. Tumour Biol 2013; 34: 3721-3729.
37. Fang F, Yu XJ, Yu L, Yao L,. MDM2 309 T/G polymorphism is associated with colorectal cancer risk especially in Asians: a meta-analysis. Med Oncol 2011; 28: 981-5.
38. Lind H, Zienolddiny S, Ekstrom PO, Skaug V, Haugen A,. Association of a functional polymorphism in the promoter of the MDM2 gene with risk of nonsmall cell lung cancer. Int J Cancer 2006; 119: 718-21.
39. Li G, Zhai X, Zhang Z, et al. MDM2 gene promoter polymorphisms and risk of lung cancer: a case-control analysis. Carcinogenesis 2006; 27: 2028-33.
40. Smirnov DA, Cheung VG,. ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs. Am J Hum Genet 2008; 83: 243-53.
41. Renaux-Petel M, Sesboue R, Baert-Desurmont S, et al. The MDM2 285G-309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome. Fam cancer 2014; 13: 127-130.
42. Neo SJ, Su X, Thomsen JS,. Surface plasmon resonance study of cooperative interactions of estrogen receptor alpha and transcriptional factor Sp1 with composite DNA elements. Anal Chem 2009; 81: 3344-9.
43. Harichand-Herdt S, Ramalingam SS,. Gender-associated differences in lung cancer: clinical characteristics and treatment outcomes in women. Semin Oncol 2009; 36: 572-80.
44. Townsend EA, Miller VM, Prakash YS,. Sex differences and sex steroids in lung health and disease. Endocrine Rev 2012; 33: 1-47.
45. Yao Y, Gu X, Zhu J, et al. Hormone replacement therapy in females can decrease the risk of lung cancer: a meta-analysis. PLoS One 2013; 8: e71236.