Asian Pacific Journal of Cancer Prevention

Asian Pacific Journal of Cancer Prevention (아시아태평양암예방학회)
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p.R72P, PIN3 Ins16bp Polymorphisms of TP53 and CCR5Δ32 in North Indian Breast Cancer Patients

  • Guleria, Kamlesh (Human Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University) ;
  • Sharma, Sarika (Human Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University) ;
  • Manjari, Mridu (Department of Pathology, Sri Guru Ram Das Institute of Medical Sciences and Research) ;
  • Uppal, Manjit Singh (Department of Surgery, Sri Guru Ram Das Institute of Medical Sciences and Research) ;
  • Singh, Neeti Rajan (Department of Surgery, Sri Guru Ram Das Institute of Medical Sciences and Research) ;
  • Sambyal, Vasudha (Human Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University)
  • Published : 2012.07.31
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Abstract

Background: The present study aimed to find the prognostic implications of two polymorphisms in TP53 (p.R72P, PIN3 Ins16bp) and one in CCR5 ($CCR5{\Delta}32$) in sporadic breast cancer patients. Methods: DNA samples of 80 breast cancer patients and 80 age and gender matched unrelated healthy control individuals from Punjab, North West India were analyzed. Results: For p.R72P, the genotype frequency was 13.8% (RR), 58.8% (RP), 27.5% (PP) in patients and 33.9% (RR), 40.0% (RP), 26.5% (PP) in controls. For PIN3 Ins16bp, the genotype frequencies were 53.75% (A1A1), 37.5% (A1A2), 8.75% (A2A2) in patients and 66.3% (A1A1), 31.3% (A1A2), 2.5% (A2A2) in controls. Only 4 (5%) breast cancer patients were heterozygous for $CCR5{\Delta}32$ deletion. Common RR-A1A1-WT/WT genotype was lower while RP-A1A2-WT/WT genotype was higher in patients as compared to controls. RP-A1A1-WT/WT genotype was significantly higher in patients as compared to control individuals (p = 0.008). Conclusion: Though a clear association of any particular genotype with sporadic breast cancer or stage was not apparent, the results of present study were suggestive that sporadic breast cancer patients with RR-A1A1-WT/WT genotype might have a better response to chemotherapy, thus improving their chances of survival.

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References

  1. Aizat AA, Shahpudin SN, Mustapha MA, et al (2011). Association of Arg72Pro of P53 polymorphism with colorectal cancer susceptibility risk in Malaysian population. Asian Pac J Cancer Prev, 12, 2909-13.
  2. Aoki MN, Da Silva do Amaral Herrera AC, Amarante MK, et al (2009). CCR5 and p53 codon 72 gene polymorphisms: implications in breast cancer development. Int J Mol Med, 23, 429-35.
  3. Apostolakis S, Baritaki S, Krambovitis E, et al (2005). Distribution of HIV/AIDS protective SDF1, CCR5 and CCR2 gene variants within Cretan population. J Clin Virol, 34, 310-4. https://doi.org/10.1016/j.jcv.2005.01.010
  4. Beckman G, Birgander R, Sjalander A, et al (1994). Is p53 polymorphism maintained by natural selection? Hum Hered, 44, 266-70. https://doi.org/10.1159/000154228
  5. Bergamaschi D, Gasco M, Hiller L, et al (2003). p53 polymorphism influences response in cancer chemotherapy via modulation of p73-dependent apoptosis. Cancer Cell, 3, 387-402. https://doi.org/10.1016/S1535-6108(03)00079-5
  6. Bhasin MK, Walter H, Danker-Hopfe H. The Distribution of Genetical, Morphological and Behavioral Traits Among the Peoples on Indian Region. Kamla-Raj Publishers, New Delhi, 1992.
  7. Bisof V, Salihovic, MP, Narancic NS, et al (2012). The TP53 gene polymorphisms and survival of sporadic breast cancer patients. Med Oncol, 29, 472-8. https://doi.org/10.1007/s12032-011-9875-2
  8. Buyru N, Tigli H, Dalay N (2003). P53 codon 72 polymorphism in breast cancer. Oncol Rep, 10, 711-4.
  9. Cao Z, Song JH, Park YK, et al (2009). The p53 codon 72 polymorphism and susceptibility to colorectal cancer in Korean patients. Neoplasma, 56, 114-8. https://doi.org/10.4149/neo_2009_02_114
  10. Costa S, Pinto D, Pereira D, et al (2008). Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer. BMC Cancer, 8, 32. https://doi.org/10.1186/1471-2407-8-32
  11. De Vecchi G, Verderio P, Pizzamiglio S, et al (2008). The p53 Arg72Pro and Ins16 bp polymorphisms and their haplotypes are not associated with breast cancer risk in BRCA-mutation negative familial cases. Cancer Detect Prev, 32, 140-3. https://doi.org/10.1016/j.cdp.2008.06.003
  12. Dumont P, Leu JI, Della Pietra AC 3rd, et al (2003). The codon 72 polymorphic variants of p53 have markedly different apoptotic potential. Nat Genet, 33, 357-65. https://doi.org/10.1038/ng1093
  13. Faghani M, Ghasemi FM, Nikhbakht M, et al (2011). TP53 PIN3 polymorphism associated with breast cancer risk in Iranian women. Indian J Cancer, 48, 298-302. https://doi.org/10.4103/0019-509X.84925
  14. Fiszer-Maliszewska L, Kazanowska B, Kusnierczyk P, et al (2004). Is p53 intronic variant G13964C associated with predisposition to cancer? J Appl Genet, 44, 547-52.
  15. Franekova M, Zubor P, Stanclova A, et al (2007). Association of p53 polymorphisms with breast cancer: a case-control study in Slovak population. Neoplasma, 54, 155-61.
  16. Gemignani F, Moreno V, Landi S, et al (2004). A TP53 polymorphism is associated with increased risk of colorectal cancer and with reduced levels of TP53 mRNA. Oncogene, 23, 1954-6. https://doi.org/10.1038/sj.onc.1207305
  17. Hamajima N, Takezaki T, Tajima K (2002). Allele frequencies of 25 polymorphisms pertaining to cancer risk for Japanese, Koreans and Chinese. Asian Pac J Cancer Prev, 3, 197-206.
  18. Hrstka R, Beranek M, Klocova K, et al (2009). Intronic polymorphisms in TP53 indicate lymph node metastasis in breast cancer. Oncol Rep, 22, 1205-11.
  19. Kaimen-Maciel DR, Reiche EM, Brum Souza DG, et al (2007). CCR5-Delta32 genetic polymorphism associated with benign clinical course and magnetic resonance imaging findings in Brazilian patients with multiple sclerosis. Int J Mol Med, 20, 337-44.
  20. Kazemi M, Salehi Z, Chakosari RJ (2009). TP53 codon 72 polymorphism and breast cancer in northern Iran. Oncol Res, 18, 25-30. https://doi.org/10.3727/096504009789745629
  21. Khaliq S, Hameed A, Khaliq T, et al (2000). P53 mutations, polymorphisms, and haplotypes in Pakistani ethnic groups and breast cancer patients. Genet Test, 4, 23-9. https://doi.org/10.1089/109065700316435
  22. Kim JG, Sohn SK, Chae YS, et al (2009). TP53 codon 72 polymorphism associated with prognosis in patients with advanced gastric cancer treated with paclitaxel and cisplatin. Cancer Chemother Pharmacol, 64, 355-60. https://doi.org/10.1007/s00280-008-0879-3
  23. Langerod A, Bukholm IR, Bregard A, et al (2002). The TP53 codon 72 polymorphism may affect the function of TP53 mutations in breast carcinomas but not in colorectal carcinomas. Cancer Epidemiol Biomarkers Prev, 11, 1684-8.
  24. Luettichau VI, Segerer S, Wechselberger A, et al (2008). A complex pattern of chemokine receptor expression is seen in osteosarcoma. BMC Cancer, 8, 23. https://doi.org/10.1186/1471-2407-8-23
  25. Mabrouk I, Baccouche S, El-Abed R, et al (2003). No evidence of correlation between p53 codon 72 polymorphism and risk of bladder or breast carcinoma in Tunisian patients. Ann N Y Acad Sci, 1010, 764-70. https://doi.org/10.1196/annals.1299.137
  26. Majumder PP, Dey B (2001). Absence of the HIV-1 protective Delta ccr5 allele in most ethnic populations of India. Eur J Hum Genet, 9, 794-6. https://doi.org/10.1038/sj.ejhg.5200705
  27. Malik MA, Sharma K, Goel S, et al (2011). Association of TP53 intron 3, 16 bp duplication polymorphism with esophageal and gastric cancer susceptibility in Kashmir Valley. Oncol Res, 19, 165-9. https://doi.org/10.3727/096504011X12935427587920
  28. Manes S, Mira E, Colomer R, et al (2003). CCR5 expression influences the progression of human breast cancer in a p53-dependent manner. J Exp Med, 198, 1381-9. https://doi.org/10.1084/jem.20030580
  29. Matlashewski GJ, Tuck S, Pim D, et al (1987). Primary structure polymorphism at amino acid residue 72 of human p53. Mol Cell Biol, 7, 961-3.
  30. Mattick JS (1994). Introns: evolution and function. Curr Opin Genet Dev, 4, 823-31. https://doi.org/10.1016/0959-437X(94)90066-3
  31. Mattick JS (2004). RNA Regulation: a new genetics? Nat Rev Genet, 5, 316. https://doi.org/10.1038/nrg1321
  32. Osorio A, Pollan M, Pita G, et al (2008). An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers. Br J Cancer, 99, 974-7. https://doi.org/10.1038/sj.bjc.6604624
  33. Pandith AA, Shah ZA, Khan NP, et al (2010). Role of TP53 Arg72Pro polymorphism in urinary bladder cancer predisposition and predictive impact of proline related genotype in advanced tumors in an ethnic Kashmiri population. Cancer Genet Cytogenet, 203, 263-8. https://doi.org/10.1016/j.cancergencyto.2010.08.010
  34. Papadakis EN, Dokianakis DN, Spandidos DA (2000). p53 codon 72 polymorphism as a risk factor in the development of breast cancer. Mol Cell Biol Res Commun, 3, 389-92. https://doi.org/10.1006/mcbr.2000.0241
  35. Pezeshki A, Sari-Aslani F, Ghaderi A, et al (2006). p53 codon 72 polymorphism in basal cell carcinoma of the skin. Pathol Oncol Res, 12, 29-33. https://doi.org/10.1007/BF02893428
  36. Runnebaum IB, Tong XW, Konig R, et al (1995). p53- based blood test for p53PIN3 and risk for sporadic ovarian cancer. Lancet, 345, 994.
  37. Sameer AS, Shah ZA, Syeed N, et al (2010). TP53 Pro47Ser and Arg72Pro polymorphisms and colorectal cancer predisposition in an ethnic Kashmiri population. Genet Mol Res, 9, 651-60. https://doi.org/10.4238/vol9-2gmr751
  38. Samson M, Libert F, Doranz BJ, et al (1996). Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene. Nature, 382, 722-5. https://doi.org/10.1038/382722a0
  39. Santos AM, Sousa H, Portela C, et al (2006). TP53 and P21 polymorphisms: response to cisplatinum/paclitaxel-based chemotherapy in ovarian cancer. Biochem Biophys Res Commun, 340, 256-62. https://doi.org/10.1016/j.bbrc.2005.11.176
  40. Sayeed N, Sameer AS, Abdullah S, et al (2010). A case-control study of TP53 R72P polymorphism in breast cancer patients of ethnic Kashmiri population. World J Oncol, 1, 236-41.
  41. Siddique MM, Balram C, Fiszer-Maliszewska L, et al (2005). Evidence for selective expression of the p53 codon 72 polymorphs: Implications in cancer development. Cancer Epidemiol Biomarkers Prev, 14, 2245-52. https://doi.org/10.1158/1055-9965.EPI-05-0153
  42. Sidoti A, D'Angelo R, Rinaldi C, et al (2005). Distribution of the mutated delta 32 allele of the CCR5 gene in a Sicilian population. Int J Immunogenet, 32, 193-8. https://doi.org/10.1111/j.1744-313X.2005.00507.x
  43. Srivastava A, Pandey SN, Choudhuri G, et al (2008). $CCR\Delta32$ Polymorphism: Associated with Gallbladder Cancer Susceptibility. Scand J Immunol, 67, 516-22. https://doi.org/10.1111/j.1365-3083.2008.02097.x
  44. Sullivan A, Syed N, Gasco M, et al (2004). Polymorphism in wild-type p53 modulates response to chemotherapy in vitro and in vivo. Oncogene, 23, 3328-37. https://doi.org/10.1038/sj.onc.1207428
  45. Suspitsin EN, Buslov KG, Grigoriev MY, et al (2003). Evidence against involvement of p53 polymorphism in breast cancer predisposition. Int J Cancer, 103, 431-3. https://doi.org/10.1002/ijc.10834
  46. Takiar R, Nadayil D, Nandakumar A (2010). Projections of Number of Cancer Cases in India (2010-2020) by Cancer Groups. Asian Pac J Cancer Prev, 11, 1045-9.
  47. Thomas M, Kalita A, Labrecque S, et al (1999). Two polymorphic variants of wild-type p53 differ biochemically and biologically. Mol Cell Biol, 19, 1092-100.
  48. Tommiska J, Eerola H, Heinonen M, et al (2005). Breast cancer patients with p53 Pro72 homozygous genotype have a poorer survival. Clin Cancer Res, 11, 5098-103. https://doi.org/10.1158/1078-0432.CCR-05-0173
  49. Toyama T, Zhang Z, Nishio M, et al (2007). Association of TP53 codon 72 polymorphism and the outcome of adjuvant therapy in breast cancer patients. Breast Cancer Res, 9, R34. https://doi.org/10.1186/bcr1682
  50. van Deventer HW, O'Connor W, Brickey WJ, et al (2005). C-C chemokine receptor 5 on stromal cells promotes pulmonary metastasis. Cancer Res, 65, 3374-9.
  51. Vannini I, Zoli W, Tesei A, et al (2008). Role of p53 codon 72 arginine allele in cell survival in vitro and in the clinical outcome of patients with advanced breast cancer. Tumour Biol, 29, 145-51. https://doi.org/10.1159/000143400
  52. Vogelstein B, Lane D, Levine AJ (2000). Surfing the p53 network. Nature, 408, 307-10. https://doi.org/10.1038/35042675
  53. Vousden KH, Lane DP (2007). p53 in health and disease. Nat Rev Mol Cell Biol, 8, 275-83. https://doi.org/10.1038/nrm2147
  54. Vousden KH, Lu X (2002). Live or let die: the cell's response to p53. Nat Rev Cancer, 2, 594-604. https://doi.org/10.1038/nrc864
  55. Wang-Gohrke S, Becher H, Kreienberg R, et al (2002). Intron 3 16bp duplication polymorphism of p53 is associated with an increased risk for breast cancer by the age of 50 years. Pharmacogenetics, 12, 269-72. https://doi.org/10.1097/00008571-200204000-00012
  56. Weng CJ, Chien MH, Lin CW, et al (2010). Effect of CC chemokine ligand 5 and CC chemokine receptor 5 genes polymorphisms on the risk and clinicopathological development of oral cancer. Oral Oncol, 46, 767-72. https://doi.org/10.1016/j.oraloncology.2010.07.011
  57. Weston A, Pan CF, Ksieski HB, et al (1997). p53 haplotype determination in breast cancer. Cancer Epidemiol Biomarkers Prev, 6, 105-12.
  58. Whibley C, Pharoah PD, Hollstein M (2009). p53 polymorphisms: cancer implications. Nat Rev Cancer, 9, 95-107. https://doi.org/10.1038/nrc2584
  59. Wilson J, Balkwill F (2002). The role of cytokines in the epithelial cancer microenvironment. Semin Cancer Biol, 12, 113-20. https://doi.org/10.1006/scbi.2001.0419
  60. Woelfelschneider A, Popanda O, Lilla C, et al (2008). A distinct ERCC1 haplotype is associated with mRNA expression levels in prostate cancer patients. Carcinogenesis, 29, 1758-64. https://doi.org/10.1093/carcin/bgn067
  61. Wu X, Zhao H, Amos CI, et al (2002). p53 genotypes and haplotypes associated with lung cancer susceptibility and ethnicity. J Natl Cancer Inst, 94, 681-90. https://doi.org/10.1093/jnci/94.9.681
  62. Xu Y, Yao L, Ouyang T, et al (2005). p53 Codon 72 Polymorphism Predicts the Pathologic Response to Neoadjuvant Chemotherapy in Patients with Breast Cancer. Clin Cancer Res, 11, 7328-33. https://doi.org/10.1158/1078-0432.CCR-05-0507
  63. Xu Y, Yao L, Zhao A, et al (2008). Effect of p53 codon 72 genotype on breast cancer survival depends on p53 gene status. Int J Cancer, 122, 2761-6. https://doi.org/10.1002/ijc.23454
  64. Yang X, Ahmad T, Gogus F, et al (2004). Analysis of the CC chemokine receptor 5 (CCR5) Delta32 polymorphism in Behçet's disease. Eur J Immunogenet, 31, 11-4. https://doi.org/10.1111/j.1365-2370.2004.00444.x
  65. Zafiropoulos A, Crikas N, Passam AM, et al (2004). Significant involvement of CCR2-64I and CXCL12-3a in the development of sporadic breast cancer. J Med Genet, 41, e59. https://doi.org/10.1136/jmg.2003.013649
  66. Zheng B, Wiklund F, Gharizadeh B, et al (2006). Genetic polymorphism of chemokine receptors CCR2 and CCR5 in Swedish cervical cancer patients. Anticancer Res, 26, 3669-74.
  67. Zhu ZZ, Wang AZ, Jia HR, et al (2007). Association of the TP53 codon 72 polymorphism with colorectal cancer in a Chinese population. Jpn J Clin Oncol, 37, 385-90. https://doi.org/10.1093/jjco/hym034

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