Effect of the MDM2 promoter polymorphisms SNP309T>G and SNP285G>C on the risk of ovarian cancer in BRCA1 mutation carriers

BMC Cancer

Volumn 12, Issue , 2012, Pages

  Bjørnslett, Merete ^a,b   Knappskog, Stian ^c,d   Lønning, Per E ^c,d   Dørum, Anne ^a,e  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

^c UNIVERSITY OF BERGEN   (Norway)

^d HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^e UNIVERSITY OF OSLO   (Norway)

Author keywords

BRCA; MDM2 SNP285; MDM2 SNP309; Ovarian cancer

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; PROTEIN MDM2;

ALLELE; ARTICLE; CANCER RISK; COMPARATIVE STUDY; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MURINE DOUBLE MINUTE 2 GENE; NUCLEOTIDE SEQUENCE; ONSET AGE; OVARY CANCER; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR SUPPRESSOR GENE;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; BRCA1 PROTEIN; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HETEROZYGOTE; HUMANS; MIDDLE AGED; MUTATION; NORWAY; OVARIAN NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; PROTO-ONCOGENE PROTEINS C-MDM2; RISK FACTORS;

EID: 84870817199     PISSN: None     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/1471-2407-12-454     Document Type: Article

References (42)

1. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003, 72:1117-1130. 10.1086/375033, 1180265, 12677558.
2. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 2007, 25:1329-1333. 10.1200/JCO.2006.09.1066, 2267287, 17416853.
3. Cancer Registry of Norway Cancer in Norway 2008 - Cancer incidence, mortality, survival and prevalence in Norway. Cancer Registry of Norway 2009, Cancer Registry of Norway.
4. Pal T, Permuth-Wey J, Betts JA, Krischer JP, Fiorica J, Arango H, et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer 2005, 104:2807-2816. 10.1002/cncr.21536, 16284991.
5. Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 2001, 68:700-710. 10.1086/318787, 1274482, 11179017.
6. ACOG Hereditary breast and ovarian cancer syndrome. Gynecol Oncol 2009, 113:6-11. ACOG.
7. King MC, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003, 302:643-646. 10.1126/science.1088759, 14576434.
8. Michelsen TM, Pripp AH, Tonstad S, Trope CG, Dorum A. Metabolic syndrome after risk-reducing salpingo-oophorectomy in women at high risk for hereditary breast ovarian cancer: a controlled observational study. Eur J Cancer 2009, 45:82-89. 10.1016/j.ejca.2008.09.028, 19008092.
9. Laughlin GA, Barrett-Connor E, Kritz-Silverstein D, von MD. Hysterectomy, oophorectomy, and endogenous sex hormone levels in older women: the Rancho Bernardo Study. J Clin Endocrinol Metab 2000, 85:645-651. 10.1210/jc.85.2.645, 10690870.
10. Atsma F, Bartelink ML, Grobbee DE, van der Schouw YT. Postmenopausal status and early menopause as independent risk factors for cardiovascular disease: a meta-analysis. Menopause 2006, 13:265-279. 10.1097/01.gme.0000218683.97338.ea, 16645540.
11. Rocca WA, Grossardt BR, de AM, Malkasian GD, Melton LJ. Survival patterns after oophorectomy in premenopausal women: a population-based cohort study. Lancet Oncol 2006, 7:821-828. 10.1016/S1470-2045(06)70869-5, 17012044.
12. Gallagher JC. Effect of early menopause on bone mineral density and fractures. Menopause 2007, 14:567-571. 10.1097/gme.0b013e31804c793d, 17476146.
13. Chen J, Wu X, Lin J, Levine AJ. mdm-2 inhibits the G1 arrest and apoptosis functions of the p53 tumor suppressor protein. Mol Cell Biol 1996, 16:2445-2452. 231233, 8628312.
14. Kubbutat MH, Jones SN, Vousden KH. Regulation of p53 stability by Mdm2. Nature 1997, 387:299-303. 10.1038/387299a0, 9153396.
15. Kurman RJ, Visvanathan K, Roden R, Wu TC, Shih I. Early detection and treatment of ovarian cancer: shifting from early stage to minimal volume of disease based on a new model of carcinogenesis. Am J Obstet Gynecol 2008, 198:351-356. 10.1016/j.ajog.2008.01.005, 2532696, 18395030.
16. Leach FS, Tokino T, Meltzer P, Burrell M, Oliner JD, Smith S, et al. p53 Mutation and MDM2 amplification in human soft tissue sarcomas. Cancer Res 1993, 53:2231-2234.
17. Reifenberger G, Liu L, Ichimura K, Schmidt EE, Collins VP. Amplification and overexpression of the MDM2 gene in a subset of human malignant gliomas without p53 mutations. Cancer Res 1993, 53:2736-2739.
18. Bartel F, Meye A, Wurl P, Kappler M, Bache M, Lautenschlager C, et al. 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, 95:168-175. 10.1002/1097-0215(20010520)95:3<168::AID-IJC1029>3.0.CO;2-A, 11307150.
19. Biernat W, Kleihues P, Yonekawa Y, Ohgaki H. Amplification and overexpression of MDM2 in primary (de novo) glioblastomas. J Neuropathol Exp Neurol 1997, 56:180-185. 10.1097/00005072-199702000-00009, 9034372.
20. 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. 10.1016/j.cell.2004.11.022, 15550242.
21. Bond GL, Hirshfield KM, Kirchhoff T, Alexe G, Bond EE, Robins H, et al. MDM2 SNP309 accelerates tumor formation in a gender-specific and hormone-dependent manner. Cancer Res 2006, 66:5104-5110. 10.1158/0008-5472.CAN-06-0180, 16707433.
22. Bond GL, Menin C, Bertorelle R, Alhopuro P, Aaltonen LA, Levine AJ. MDM2 SNP309 accelerates colorectal tumour formation in women. J Med Genet 2006, 43:950-952. 10.1136/jmg.2006.043539, 2563203, 16825430.
23. Schmidt MK, Reincke S, Broeks A, Braaf LM, Hogervorst FB, Tollenaar RA, 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, 67:9584-9590. 10.1158/0008-5472.CAN-07-0738, 17909070.
24. Wilkening S, Bermejo JL, Hemminki K. MDM2 SNP309 and cancer risk: a combined analysis. Carcinogenesis 2007, 28:2262-2267. 10.1093/carcin/bgm191, 17827408.
25. 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, 16:2717-2723. 10.1158/1055-9965.EPI-07-0634, 18086778.
26. Economopoulos KP, Sergentanis TN. Differential effects of MDM2 SNP309 polymorphism on breast cancer risk along with race: a meta-analysis. Breast Cancer Res Treat 2009, 120:211-216.
27. Gui XH, Qiu LX, Zhang HF, Zhang DP, Zhong WZ, Li J, et al. MDM2 309 T/G polymorphism is associated with lung cancer risk among Asians. Eur J Cancer 2009, 45:2023-2026. 10.1016/j.ejca.2009.02.002, 19264476.
28. Knappskog S, Bjornslett M, Myklebust LM, Huijts PE, Vreeswijk MP, Edvardsen H, 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, 19:273-282. 10.1016/j.ccr.2010.12.019, 21316605.
29. Knappskog S, Trovik J, Marcickiewicz J, Tingulstad S, Staff AC, Romundstad P, 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, 48:1988-1996. 10.1016/j.ejca.2011.10.024, 22119201.
30. Knappskog S, Lonning PE. MDM2 promoter SNP285 and SNP309; phylogeny and impact on cancer risk. Oncotarget 2011, 2:251-258. 3260817, 21436469.
31. Rebbeck TR, Mitra N, Domchek SM, Wan F, Chuai S, Friebel TM, et al. Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers. Cancer Res 2009, 69:5801-5810. 10.1158/0008-5472.CAN-09-0625, 2751603, 19584272.
32. Engel C, Versmold B, Wappenschmidt B, Simard J, Easton DF, Peock S, et al. Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev 2010, 19:2859-2868. 10.1158/1055-9965.EPI-10-0517, 3077716, 20978178.
33. Ramus SJ, Kartsonaki C, Gayther SA, Pharoah PD, Sinilnikova OM, Beesley J, et al. Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 2011, 103:105-116. 10.1093/jnci/djq494, 3107565, 21169536.
34. Boersma BJ, Howe TM, Goodman JE, Yfantis HG, Lee DH, Chanock SJ, et al. Association of breast cancer outcome with status of p53 and MDM2 SNP309. J Natl Cancer Inst 2006, 98:911-919. 10.1093/jnci/djj245, 16818855.
35. Ma H, Hu Z, Zhai X, Wang S, Wang X, Qin J, et al. Polymorphisms in the MDM2 promoter and risk of breast cancer: a case-control analysis in a Chinese population. Cancer Lett 2006, 240:261-267. 10.1016/j.canlet.2005.09.019, 16288830.
36. Kang S, Wang DJ, Li WS, Wang N, Zhou RM, Sun DL, et al. Association of p73 and MDM2 polymorphisms with the risk of epithelial ovarian cancer in Chinese women. Int J Gynecol Cancer 2009, 19:572-577. 10.1111/IGC.0b013e3181a130ab, 19509552.
37. Ueda M, Yamamoto M, Nunobiki O, Toji E, Sato N, Izuma S, et al. Murine double-minute 2 homolog single nucleotide polymorphism 309 and the risk of gynecologic cancer. Hum Cell 2009, 22:49-54. 10.1111/j.1749-0774.2009.00068.x, 19379464.
38. 1000 Genomes Project Consortium A map of human genome variation from population-scale sequencing. Nature 2010, 467:1061-1073. 10.1038/nature09534, 3042601, 20981092, 1000 Genomes Project Consortium.
39. Campbell IG, Eccles DM, Choong DY. No association of the MDM2 SNP309 polymorphism with risk of breast or ovarian cancer. Cancer Lett 2006, 240:195-197. 10.1016/j.canlet.2005.09.003, 16239061.
40. Galic V, Willner J, Wollan M, Garg R, Garcia R, Goff BA, et al. Common polymorphisms in TP53 and MDM2 and the relationship to TP53 mutations and clinical outcomes in women with ovarian and peritoneal carcinomas. Genes Chromosomes Cancer 2007, 46:239-247. 10.1002/gcc.20407, 17171684.
41. Yarden RI, Friedman E, Metsuyanim S, Olender T, Ben-Asher E, Papa MZ. MDM2 SNP309 accelerates breast and ovarian carcinogenesis in BRCA1 and BRCA2 carriers of Jewish-Ashkenazi descent. Breast Cancer Res Treat 2008, 111:497-504. 10.1007/s10549-007-9797-z, 18026875.
42. Copson ER, White HE, Blaydes JP, Robinson DO, Johnson PW, Eccles DM. Influence of the MDM2 single nucleotide polymorphism SNP309 on tumour development in BRCA1 mutation carriers. BMC Cancer 2006, 6:80. 10.1186/1471-2407-6-80, 1483833, 16563154.