MDM2 promoter SNP55 (rs2870820) affects risk of colon cancer but not breast-, lung-, or prostate cancer

Scientific Reports

Volumn 6, Issue , 2016, Pages

  Helwa, Reham ^a,b,e   Gansmo, Liv B ^a,b   Romundstad, Pål ^c   Hveem, Kristian ^c   Vatten, Lars ^c   Ryan, Bríd M ^d   Harris, Curtis C ^d   Lønning, Per E ^a,b   Knappskog, Stian ^a,b  

^a UNIVERSITY OF BERGEN   (Norway)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

^d NATIONAL CANCER INSTITUTE   (United States)

^e Ain Shams University   (Egypt)

Author keywords

[No Author keywords available]

Indexed keywords

MDM2 PROTEIN, HUMAN; PROTEIN MDM2;

AFRICAN AMERICAN; BREAST TUMOR; CAUCASIAN; CLINICAL TRIAL; COLON TUMOR; ETHNOLOGY; FEMALE; GENETICS; GENOTYPE; HUMAN; LUNG TUMOR; MALE; PROMOTER REGION; PROSTATE TUMOR; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

AFRICAN AMERICANS; BREAST NEOPLASMS; COLONIC NEOPLASMS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENOTYPE; HUMANS; LUNG NEOPLASMS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; PROSTATIC NEOPLASMS; PROTO-ONCOGENE PROTEINS C-MDM2; RISK FACTORS;

EID: 84987723048     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep33153     Document Type: Article

References (36)

1. Haupt, Y., Maya, R., Kazaz, A., Oren, M. Mdm2 promotes the rapid degradation of p53. Nature 387, 296-299, doi: 10.1038/387296a0 (1997).
2. Honda, R., Tanaka, H., Yasuda, H. Oncoprotein MDM2 is a ubiquitin ligase E3 for tumor suppressor p53. FEBS Lett 420, 25-27, doi: S0014-5793(97)01480-4 (1997).
3. Oliner, J. D., Kinzler, K. W., Meltzer, P. S., George, D. L., Vogelstein, B. Amplification of a gene encoding a p53-associated protein in human sarcomas. Nature 358, 80-83, doi: 10.1038/358080a0 (1992).
4. Momand, J., Jung, D., Wilczynski, S., Niland, J. The MDM2 gene amplification database. Nucleic Acids Res 26, 3453-3459, doi: gkb548 (1998).
5. Barak, Y., Gottlieb, E., Juven-Gershon, T., Oren, M. Regulation of mdm2 expression by p53: alternative promoters produce transcripts with nonidentical translation potential. Genes Dev 8, 1739-1749 (1994).
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 23, 2584-2592 (1995).
7. Knappskog, S. et al. MDM2 promoter SNP344T > A (rs1196333) status does not affect cancer risk. PLoS One 7, e36263, doi: 10.1371/journal.pone.0036263 (2012).
8. Bond, G. L. et al. A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans. Cell 119, 591-602 (2004).
9. Knappskog, S. 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 19, 273-282, doi: S1535-6108(10)00528-310.1016/j.ccr.2010.12.019 (2011).
10. Knappskog, S. et al. Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649). Oncotarget 5, 8223-8234, doi: 10.18632/oncotarget.1910 (2014).
11. Hu, Z. et al. MDM2 promoter polymorphism SNP309 contributes to tumor susceptibility: evidence from 21 case-control studies. Cancer Epidemiol Biomarkers Prev 16, 2717-2723 (2007).
12. Economopoulos, K. P., Sergentanis, T. N. Differential effects of MDM2 SNP309 polymorphism on breast cancer risk along with race: a meta-analysis. Breast Cancer Res Treat 120, 211-216, doi: 10.1007/s10549-009-0467-1 (2010).
13. Paulin, F. E. 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 8, 281, doi: 10.1186/1471-2407-8-281 (2008).
14. Knappskog, S. 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 48, 1988-1996, doi: 10.1016/j.ejca.2011.10.024 (2012).
15. Knappskog, S., Lonning, P. E. MDM2 promoter SNP285 and SNP309; phylogeny and impact on cancer risk. Oncotarget 2, 251-258, doi: 243 (2011).
16. Okamoto, K. et al. SNP55, a new functional polymorphism of MDM2-P2 promoter, contributes to allele-specific expression of MDM2 in endometrial cancers. BMC medical genetics 16, 67, doi: 10.1186/s12881-015-0216-8 (2015).
17. Gansmo, L. B. et al. Influence of MDM2 SNP309 and SNP285 status on the risk of cancer in the breast, prostate, lung and colon. International journal of cancer. Journal international du cancer 137, 96-103, doi: 10.1002/ijc.29358 (2015).
18. de Voer, R. M. et al. Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. Scientific reports 5, 14060, doi: 10.1038/srep14060 (2015).
19. Berwick, M. et al. Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Cancer Res 67, 9591-9596, doi: 10.1158/0008-5472.CAN-07-1501 (2007).
20. Dite, G. S. et al. Familial risks, early-onset breast cancer, and BRCA1 and BRCA2 germline mutations. J Natl Cancer Inst 95, 448-457 (2003).
21. Lin, P. H. et al. Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. Oncotarget, doi: 10.18632/oncotarget.7027 (2016).
22. Albuquerque, C., Bakker, E. R., van Veelen, W., Smits, R. Colorectal cancers choosing sides. Biochimica et biophysica acta 1816, 219-231, doi: 10.1016/j.bbcan.2011.07.005 (2011).
23. Fishel, R. et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75, 1027-1038 (1993).
24. Papadopoulos, N. et al. Mutation of a mutL homolog in hereditary colon cancer. Science 263, 1625-1629 (1994).
25. Miyaki, M. et al. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 17, 271-272, doi: 10.1038/ng1197-271 (1997).
26. Rijcken, F. E., Hollema, H., Kleibeuker, J. H. Proximal adenomas in hereditary non-polyposis colorectal cancer are prone to rapid malignant transformation. Gut 50, 382-386 (2002).
27. Lynch, H. T., Smyrk, T. Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. Cancer 78, 1149-1167, doi: 10.1002/(SICI)1097-0142(19960915)78:6 1149::AID-CNCR13.0.CO;2-5 (1996).
28. Ryan, B. M. et al. MDM2 SNP285 does not antagonize the effect of SNP309 in lung cancer. International journal of cancer. Journal international du cancer 131, 2710-2716, doi: 10.1002/ijc.27573 (2012).
29. Bond, G. L. et al. MDM2 SNP309 Accelerates colorectal tumour formation in women. J Med Genet (2006).
30. Bond, G. L. et al. MDM2 SNP309 accelerates tumor formation in a gender-specific and hormone-dependent manner. Cancer Res 66, 5104-5110 (2006).
31. Firoz, E. F. et al. Association of MDM2 SNP309, age of onset, and gender in cutaneous melanoma. Clin Cancer Res 15, 2573-2580, doi: 10.1158/1078-0432.CCR-08-2678 (2009).
32. Lind, H., Zienolddiny, S., Ekstrom, P. O., Skaug, V., Haugen, A. Association of a functional polymorphism in the promoter of the MDM2 gene with risk of nonsmall cell lung cancer. International journal of cancer. Journal international du cancer 119, 718-721 (2006).
33. Brekman, A., Singh, K. E., Polotskaia, A., Kundu, N., Bargonetti, J. A p53-independent role of Mdm2 in estrogen-mediated activation of breast cancer cell proliferation. Breast Cancer Res 13, R3, doi: 10.1186/bcr2804 (2011).
34. Hu, W. et al. A single nucleotide polymorphism in the MDM2 gene disrupts the oscillation of p53 and MDM2 levels in cells. Cancer Res 67, 2757-2765, doi: 10.1158/0008-5472.CAN-06-2656 (2007).
35. Naess, O. et al. Cohort profile: cohort of Norway (CONOR). International journal of epidemiology 37, 481-485, doi: 10.1093/ije/dym217 (2008).
36. Robles, A. I. et al. A DRD1 polymorphism predisposes to lung cancer among those exposed to secondhand smoke during childhood. Cancer prevention research 7, 1210-1218, doi: 10.1158/1940-6207.CAPR-14-0158 (2014).