Effect of TP53 Arg72Pro and MDM2 SNP309 polymorphisms on the risk of high-grade osteosarcoma development and survival

Clinical Cancer Research

Volumn 15, Issue 10, 2009, Pages 3550-3556

  Toffoli, Giuseppe ^a   Biason, Paola ^a   Russo, Antonio ^b   De Mattia, Elena ^a   Cecchin, Erika ^a   Hattinger, Claudia Maria ^c   Pasello, Michela ^c   Alberghini, Marco ^c   Ferrari, Cristina ^c   Scotlandi, Katia ^c   Picci, Piero ^c   Serra, Massimo ^c  

^a CENTRO DI RIFERIMENTO ONCOLOGICO   (Italy)

^b SAN CARLO BORROMEO HOSPITAL   (Italy)

^c RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CISPLATIN; DOXORUBICIN; IFOSFAMIDE; METHOTREXATE; PROLINE; PROTEIN MDM2; PROTEIN P53;

ADOLESCENT; ADULT; AGED; ARTICLE; CANCER ADJUVANT THERAPY; CANCER MORTALITY; CANCER PATIENT; CANCER RECURRENCE; CANCER RISK; CANCER SURVIVAL; CHILD; CONTROLLED STUDY; CORRELATIONAL STUDY; DISEASE COURSE; EVENT FREE SURVIVAL; FEMALE; GENDER; HAZARD RATIO; HUMAN; HUMAN TISSUE; LIMB; LUNG METASTASIS; MAJOR CLINICAL STUDY; MALE; OSTEOSARCOMA; OVERALL SURVIVAL; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; RISK ASSESSMENT; RISK FACTOR; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SUBSTITUTION; CHILD; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MULTIVARIATE ANALYSIS; OSTEOSARCOMA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-MDM2; RISK FACTORS; SURVIVAL ANALYSIS; TUMOR SUPPRESSOR PROTEIN P53; YOUNG ADULT;

EID: 66149186857     PISSN: 10780432     EISSN: None     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-08-2249     Document Type: Article

References (49)

1. Toledo F, Wahl GM. Regulating the p53 pathway: in vitro hypotheses, in vivo veritas. Nat Rev Cancer 2006;6:909-923
2. Birch JM, Blair V, Kelsey AM, et al. Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. Oncogene 1998;17:1061-1068 (Pubitemid 28444590)
3. Borresen AL, Andersen TI, Eyfjord JE, et al. TP53 mutations and breast cancer prognosis: particularly poor survival rates for cases with mutations in the zinc-binding domains. Genes Chromosomes Cancer 1995;14:71-75
4. Erber R, Conradt C, Homann N, et al. TP53 DNA contact mutations are selectively associated with allelic loss and have a strong clinical impact in head and neck cancer. Oncogene 1998;16:1671-1679 (Pubitemid 28175048)
5. Chen K, Hu Z, Wang LE, et al. Polymorphic TP53BP1 and TP53 gene interactions associated with risk of squamous cell carcinoma of the head and neck. Clin Cancer Res 2007;13:4300-4305
6. Olivier M, Langerod A, Carrieri P, et al. The clinical value of somatic TP53 gene mutations in 1,794 patients with breast cancer. Clin Cancer Res 2006;12:1157-1167 (Pubitemid 43342504)
7. Savage SA, Burdett L, Troisi R, Douglass C, Hoover RN, Chanock SJ. Germ-line genetic variation of TP53 in osteosarcoma. Pediatr Blood Cancer 2007;49:28-33. (Pubitemid 46850651)
8. Dirix LY, Van Oosterom AT. Soft tissue sarcoma in adults. Curr Opin Oncol 1999;11:285-295 (Pubitemid 29312748)
9. Goto A, Kanda H, Ishikawa Y, et al. Association of loss of heterozygosity at the p53 locus with chemoresistance in osteosarcomas. Jpn J Cancer Res 1998;89:539-547 (Pubitemid 28302120)
10. Papai Z, Feja CN, Hanna EN, Sztan M, Olah E, Szendroi M. p53 overexpression as an indicator of overall survival and response to treatment in osteosarcomas. Pathol Oncol Res 1997;3:15-19
11. Yokoyama R, Schneider-Stock R, Radig K, Wex T, Roessner A. Clinicopathologic implications of MDM2, p53 and K-ras gene alterations in osteosarcomas: MDM2 amplification and p53 mutations found in progressive tumors. Pathol Res Pract 1998;194:615-621 (Pubitemid 28451457)
12. Pakos EE, Kyzas PA, Ioannidis JP. Prognostic significance of TP53 tumor suppressor gene expression and mutations in human osteosarcoma: a meta-analysis. Clin Cancer Res 2004;10:6208-6214 (Pubitemid 39287528)
13. Kyndi M, Alsner J, Hansen LL, Sorensen FB, Overgaard J. LOH rather than genotypes of TP53 codon 72 is associated with disease-free survival in primary breast cancer. Acta Oncol 2006;45:602-609 (Pubitemid 44167213)
14. Gokgoz N, Wunder JS, Mousses S, Eskandarian S, Bell RS, Andrulis IL. Comparison of p53 mutations in patients with localized osteosarcoma and metastatic osteosarcoma. Cancer 2001;92:2181-2189 (Pubitemid 32973330)
15. Toyama T, Zhang Z, Nishio M, et al. Association of TP53 codon 72 polymorphism and the outcome of adjuvant therapy in breast cancer patients. Breast Cancer Res 2007;9:R34. (Pubitemid 350215173)
16. Galic V, Willner J, Wollan M, 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 (Pubitemid 46155319)
17. Yang W, Zhang Y, Tian X, Ning T, Ke Y. p53 codon 72 polymorphism and the risk of esophageal squamous cell carcinoma. Mol Carcinog 2008;47:100-104
18. Lima-Ramos V, Pacheco-Figueiredo L, Costa S, et al. TP53 codon 72 polymorphism in susceptibility, overall survival, and adjuvant therapy response of gliomas. Cancer Genet Cytogenet 2008;180:14-19 (Pubitemid 350199693)
19. Freedman DA, Wu L, Levine AJ. Functions of the MDM2 oncoprotein. Cell Mol Life Sci 1999;55:96-107. (Pubitemid 29077858)
20. Onel K, Cordon-Cardo C. MDM2 and prognosis. Mol Cancer Res 2004;2:1-8. (Pubitemid 38167102)
21. Cordon-Cardo C, Latres E, Drobnjak M, et al. Molecular abnormalities of mdm2 and p53 genes in adult soft tissue sarcomas. Cancer Res 1994;54:794-799 (Pubitemid 24068339)
22. Leach FS, Tokino T, Meltzer P, et al. p53 mutation and MDM2 amplification in human soft tissue sarcomas. Cancer Res 1993;53:2231-2234 (Pubitemid 23156805)
23. Oliner JD, Kinzler KW, Meltzer PS, George DL, Vogelstein B. Amplification of a gene encoding a p53-associated protein in human sarcomas. Nature 1992;358:80-83
24. Bond GL, Hu W, Bond EE, 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)
25. Bond GL, Hu W, Levine A. A single nucleotide polymorphism in the MDM2 gene: from a molecular and cellular explanation to clinical effect. Cancer Res 2005;65:5481-5484 (Pubitemid 40911143)
26. Bond GL, Hirshfield KM, Kirchhoff T, et al. MDM2 SNP309 accelerates tumor formation in a gender-specific and hormone-dependent manner. Cancer Res 2006;66:5104-5110 (Pubitemid 43844932)
27. 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;119:718-721 (Pubitemid 43955729)
28. Sanchez-Carbayo M, Socci ND, Kirchoff T, et al. A polymorphism in HDM2 (SNP309) associates with early onset in superficial tumors, TP53 mutations, and poor outcome in invasive bladder cancer. Clin Cancer Res 2007;13:3215-3220
29. 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;67:9584-9590
30. Okumura N, Saji S, Eguchi H, Nakashima S, Saji S, Hayashi S. Distinct promoter usage of mdm2 gene in human breast cancer. Oncol Rep 2002;9:557-563
31. Phelps M, Darley M, Primrose JN, Blaydes JP. p53-independent activation of the hdm2-P2 promoterthrough multiple transcription factor response elements results in elevated hdm2 expression in estrogen receptor α-positive breast cancer cells. Cancer Res 2003;63:2616-2623 (Pubitemid 36605204)
32. Fletcher CDM, Unni KK, Mertens F. Pathology and genetics of tumours of soft tissue and bone. Lyon: IARC Press, International Agency for Research on Cancer; 2002.
33. Bacci G, Longhi A, Fagioli F, Briccoli A, Versari M, Picci P. Adjuvant and neoadjuvant chemotherapy for osteosarcoma of the extremities: 27 year experience at Rizzoli Institute, Italy. Eur J Cancer 2005;41:2836-2845 (Pubitemid 41713121)
34. Curado MP, Edwards B, Shin HR, Storm H, Ferlay J, Heanue M, Boyle P. Cancer incidence in five continents, vol. IX. Lyon: IARC Scientific Publications; 2007.
35. Bueso-Ramos CE, Manshouri T, Haidar MA, et al. Abnormal expression of MDM-2 in breast carcinomas. Breast Cancer Res Treat 1996;37:179-188 (Pubitemid 26030095)
36. Malkin D, Li FP, Strong LC, et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 1990;250:1233-1238 (Pubitemid 120031831)
37. Santos AM, Sousa H, Pinto D, et al. Linking TP53 codon 72 and P21 nt590 genotypes to the development of cervical and ovarian cancer. Eur J Cancer 2006;42:958-963 (Pubitemid 41827674)
38. Wang Y, Kringen P, Kristensen GB, et al. Effect of the codon 72 polymorphism (c.215G>C, p.Arg72Pro) in combination with somatic sequence variants in the TP53 gene on survival in patients with advanced ovarian carcinoma. Hum Mutat 2004;24:21-34. (Pubitemid 38859221)
39. de la Calle O, Yague J, Gaya A, Romero M, Vives J. Biallelic Bgl II DNA polymorphism of the human p53 oncogene. Nucleic Acids Res 1990;18:206. (Pubitemid 20047853)
40. Siddique MM, Balram C, Fiszer-Maliszewska L, et al. Evidence for selective expression of the p53 codon 72 polymorphs: implications in cancer development. Cancer Epidemiol Biomarkers Prev 2005;14:2245-2252 (Pubitemid 41603274)
41. Cavallone L, Arcand SL, Maugard C, et al. Haplotype analysis of TP53 polymorphisms, Arg72-Pro and Ins16, in BRCA1 and BRCA2 mutation carriers of French Canadian descent. BMC Cancer 2008;8:96.
42. Mitra S, Chatterjee S, Panda CK, et al. Haplotype structure of TP53 locus in Indian population and possible association with head and neck cancer. Ann Hum Genet 2003;67:26-34. (Pubitemid 38312847)
43. Aas T, Borresen AL, Geisler S, et al. Specific P53 mutations are associated with de novo resistance to doxorubicin in breast cancer patients. Nat Med 1996;2:811-814 (Pubitemid 26225099)
44. Bunz F, Hwang PM, Torrance C, et al. Disruption of p53 in human cancer cells alters the responses to therapeutic agents. J Clin Invest 1999;104:263-269
45. Wunder JS, Gokgoz N, Parkes R, et al. TP53 mutations and outcome in osteosarcoma: a prospective, multicenter study. J Clin Oncol 2005;23:1483-1490 (Pubitemid 46260036)
46. Bonafe M, Salvioli S, Barbi C, et al. p53 codon 72 genotype affects apoptosis by cytosine arabinoside in blood leukocytes. Biochem Biophys Res Commun 2002;299:539-541 (Pubitemid 36034578)
47. Dumont P, Leu JI, Della PA III, George DL, Murphy M. The codon 72 polymorphic variants of p53 have markedly different apoptotic potential. Nat Genet 2003;33:357-365 (Pubitemid 36278852)
48. Saeter G, Hoie J, Stenwig AE, Johansson AK, Hannisdal E, Solheim OP. Systemic relapse of patients with osteogenic sarcoma. Prognostic factors for long term survival. Cancer 1995;75:1084-1093
49. Tabone MD, Kalifa C, Rodary C, Raquin M, Valteau-Couanet D, Lemerle J. Osteosarcoma recurrences in pediatric patients previously treated with intensive chemotherapy. J Clin Oncol 1994;12:2614-2620 (Pubitemid 24379647)