Association of rs1042522 SNP with Clinicopathologic Factors of Breast Cancer Patients in the Markazi Province of Iran
DOI:
https://doi.org/10.3889/oamjms.2018.486Keywords:
breast cancer, TP53, nested-PCR, chemotherapyAbstract
BACKGROUND: The nucleotide changes in different genetic loci increased the incidence risk of breast cancer.
AIM: The aim of present study was to investigate genotype distribution at codon 72 of the TP53 gene (rs1042522) in breast cancer patients to achieve a potential diagnostic marker related to some demographic feathers.
METHODS: In our case-control study, blood samples were collected from a total of 34 patients harboured breast cancer. DNA was extracted, and nested-PCR was performed. Products were digested with AccII and subsequently were sequenced. Results were compared with samples characteristics.
RESULTS: The PCR results indicated the correct implementation of extraction and amplification protocol. The genotypic distribution at codon 72 of TP53 in control group was 20%, 62.4% and 16.6% for Arg (wildtype), Arg/Pro (heterozygous) and Pro (homozygous variant) respectively. Also, this distribution in the patient group was 23.52% homozygous, 50% heterozygous, and 26.47% another homozygous variant (Adjusted odds ratio: 1.12 and 95%CI = 0.57 to 2.2, P = 0.03). The absence of Arg at codon 72 of TP53 is relevant with age higher than 40 years and metastasis to other organs.
CONCLUSION: Polymorphism at codon 72 of TP53 was associated with high-grades of breast cancer risk and different responses to chemotherapy treatment. It is recommended genotype distribution of codon 72 of TP53 before chemotherapy.
Downloads
Metrics
Plum Analytics Artifact Widget Block
References
Yarnold J. Early and locally advanced breast cancer: diagnosis and treatment National Institute for Health and Clinical Excellence guideline 2009. Clinical Oncology. 2009; 21(3):159-60. https://doi.org/10.1016/j.clon.2008.12.008 PMid:19167201
Israyelyan AH. The development of molecular diagnostics for breast cancer. 2003.
McCafferty MP, Healy NA, Kerin MJ. Breast cancer subtypes and molecular biomarkers. Diagnostic Histopathology. 2009; 15(10):485-9. https://doi.org/10.1016/j.mpdhp.2009.07.002
Blenkiron C, Goldstein LD, Thorne NP, Spiteri I, Chin SF, Dunning MJ, Barbosa-Morais NL, Teschendorff AE, Green AR, Ellis IO, Tavaré S. MicroRNA expression profiling of human breast cancer identifies new markers of tumor subtype. Genome biology. 2007; 8(10):R214. https://doi.org/10.1186/gb-2007-8-10-r214 PMid:17922911 PMCid:PMC2246288
Ahmadi A, Khansarinejad B, Hosseinkhani S, Ghanei M, Mowla SJ. miR-199a-5p and miR-495 target GRP78 within UPR pathway of lung cancer. Gene. 2017 Jul 15;620:15-22. https://doi.org/10.1016/j.gene.2017.03.032 PMid:28363780
Joensuu K. Tumor Dormancy in Breast Cancer. 2012.
Mehta D, Gonik M, Klengel T, Rex-Haffner M, Menke A, Rubel J, Mercer KB, Pütz B, Bradley B, Holsboer F, Ressler KJ. Using polymorphisms in FKBP5 to define biologically distinct subtypes of posttraumatic stress disorder: evidence from endocrine and gene expression studies. Archives of general psychiatry. 2011 Sep 5;68(9):901-10. https://doi.org/10.1001/archgenpsychiatry.2011.50 PMid:21536970 PMCid:PMC3686481
Savad S, Mehdipour P, Miryounesi M, Shirkoohi R, Fereidooni F, Mansouri F, Modarressi MH. Expression analysis of MiR-21, MiR-205, and MiR-342 in breast cancer in Iran. Asian Pacific Journal of Cancer Prevention. 2012; 13:873-877. https://doi.org/10.7314/APJCP.2012.13.3.873 PMid:22631664
Doosti A, Dehkordi PG, Davoudi N. A p53 codon 72 polymorphism associated with breast cancer in Iranian patients. African Journal of Pharmacy and Pharmacology. 2011; 5(10):1278-1281. https://doi.org/10.5897/AJPP10.394
Han JY, Lee GK, Jang DH, Lee SY, Lee JS. Association of p53 codon 72 polymorphism and MDM2 SNP309 with clinical outcome of advanced nonsmall cell lung cancer. Cancer: Interdisciplinary International Journal of the American Cancer Society. 2008;113(4):799-807. https://doi.org/10.1002/cncr.23668 PMid:18618574
Reiling E, Lyssenko V, Boer JM, Imholz S, Verschuren WMM, Isomaa B, Tuomi T, Groop L, Dollé ME. Codon 72 polymorphism (rs1042522) of TP53 is associated with changes in diastolic blood pressure over time. European Journal of Human Genetics. 2012; 20(6):696. https://doi.org/10.1038/ejhg.2011.240 PMid:22189267 PMCid:PMC3355249
Asadi M, Shanehbandi D, Zarintan A, Pedram N, Baradaran B, Zafari V, Shirmohamadi M, Hashemzadeh S. TP53Gene Pro72Arg (rs1042522) Single Nucleotide Polymorphism as Not a Risk Factor for Colorectal Cancer in the Iranian Azari Population. Asian Pacific journal of cancer prevention: APJCP. 2017; 18(12):3423. PMid:29286614
He J, Wang F, Zhu J, Zhang Z, Zou Y, Zhang R, Yang T, Xia H. The TP53 gene rs1042522 C> G polymorphism and neuroblastoma risk in Chinese children. Aging (Albany NY). 2017; 9(3):852. https://doi.org/10.18632/aging.101196 PMid:28275206 PMCid:PMC5391235
Jahani M, Anoushirvani AA, Shahi F, Azimaraghi O. Abducens nerve palsy as initial presentation of Burkitt Lymphoma during Pregnancy Post–Cesarean abducens nerve paresis and Headache. International Journal of Hematology-Oncology and Stem Cell Research. 2009; 3(1):37-9.
De Jong MM, Nolte IM, Te Meerman GJ, Van der Graaf WTA, Oosterwijk JC, Kleibeuker JH, Schaapveld M, De Vries EGE. Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility. Journal of medical genetics. 2002; 39(4):225-242. https://doi.org/10.1136/jmg.39.4.225 PMid:11950848 PMCid:PMC1735082
Osborne C, Wilson P, Tripathy D. Oncogenes and tumor suppressor genes in breast cancer: potential diagnostic and therapeutic applications. The oncologist. 2004; 9(4):361-377. https://doi.org/10.1634/theoncologist.9-4-361 PMid:15266090
Shojaei S, Gardaneh M, Rahimi Shamabadi A. Target points in trastuzumab resistance. International journal of breast cancer. 2012; 2012.
Cristofanilli M, Hortobagyi GN. Molecular targets in breast cancer: current status and future directions. Endocrine-related cancer. 2002; 9(4):249-266. https://doi.org/10.1677/erc.0.0090249 PMid:12542402
Evans DG, Brentnall A, Byers H, Harkness E, Stavrinos P, Howell A, Newman WG, Cuzick J. FH-risk study Group. The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case–control study. Journal of medical genetics. 2017; 54(2):111-113. https://doi.org/10.1136/jmedgenet-2016-104125 PMid:27794048
Furrer D, Lemieux J, Côté MA, Provencher L, Laflamme C, Barabé F, Jacob S, Michaud A, Diorio C. Evaluation of human epidermal growth factor receptor 2 (HER2) single nucleotide polymorphisms (SNPs) in normal and breast tumor tissues and their link with breast cancer prognostic factors. The Breast. 2016; 30:191-196. https://doi.org/10.1016/j.breast.2016.09.014 PMid:27788409
Hamdi Y, Soucy P, Adoue V, Michailidou K, Canisius S, Lemaçon A, Droit A, Andrulis IL, Anton-Culver H, Arndt V, Baynes C. Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21. Oncotarget. 2016; 7(49):80140. https://doi.org/10.18632/oncotarget.12818 PMid:27792995 PMCid:PMC5340257
Toomey S, Madden SF, Furney SJ, Fan Y, McCormack M, Stapleton C, Cremona M, Cavalleri GL, Milewska M, Elster N, Carr A. The impact of ERBB-family germline single nucleotide polymorphisms on survival response to adjuvant trastuzumab treatment in HER2-positive breast cancer. Oncotarget. 2016; 7(46):75518. https://doi.org/10.18632/oncotarget.12782 PMid:27776352 PMCid:PMC5342757
Camargo-Kosugi CMD, D'Amora P, Kleine JP, Carvalho CVD, Sato H, Schor E, Silva ID. TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population. Genet Mol Res. 2014; 13(3):6503-11. https://doi.org/10.4238/2014.August.26.1 PMid:25177931
Cao J, Luo C, Yan R, Peng R, Wang K, Wang P, Ye H, Song C. rs15869 at miRNA binding site in BRCA2 is associated with breast cancer susceptibility. Medical Oncology. 2016; 33(12):135. https://doi.org/10.1007/s12032-016-0849-2 PMid:27807724
Gavin PG, Song N, Kim SR, Lipchik C, Johnson NL, Bandos H, Finnigan M, Rastogi P, Fehrenbacher L, Mamounas EP, Swain SM. Association of polymorphisms in FCGR2A and FCGR3A with degree of trastuzumab benefit in the adjuvant treatment of ERBB2/HER2–positive breast cancer: analysis of the NSABP B-31 trial. JAMA oncology. 2017; 3(3):335-341. https://doi.org/10.1001/jamaoncol.2016.4884 PMid:27812689 PMCid:PMC5344747
Anoushirvani AA, Ahmadi A, Aghabozorgi R, Khalili S, Sahraei M, Fereydouni T, Khademi Z. Gengenotypic Evaluation of Hsa-miR-433-3p Binding Site in the Regulatory Region of TYMS in Breast Cancer Patients. AMUJ. 2018; 1-9
Yi-Chen H, Shih-Hsin T, Chien-Tien S, Er-Chieh C, Chih-Hsiung W, Mao-Chih H, Shiyng-Yu L, Yun-Ru L, Chin-Sheng H, Hung-Yi C. A polygenic risk scores for breast cancer risk in a Taiwanese population. Breast cancer research and treatmen. 2017; 163(1):131-138. https://doi.org/10.1007/s10549-017-4144-5 PMid:28205043
Kim JG, Sohn SK, Chae YS, Song HS, Kwon KY, Do YR, Kim MK, Lee KH, Hyun MS, Lee WS, Sohn CH. TP53 codon 72 polymorphism associated with prognosis in patients with advanced gastric cancer treated with paclitaxel and cisplatin. Cancer chemotherapy and pharmacology. 2009; 64(2):355-60. https://doi.org/10.1007/s00280-008-0879-3 PMid:19052714
Zheng D, Chen Y, Gao C, Wei Y, Cao G, Lu N, Hou Y, Jiang X, Wang J. Polymorphisms of p53 and MDM2 genes are associated with severe toxicities in patients with non-small cell lung cancer. Cancer biology & therapy. 2014; 15(11):1542-51. https://doi.org/10.4161/15384047.2014.956599 PMid:25482940 PMCid:PMC4623062
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2018 Ali Arash Anoushirvani, Reza Aghabozorgi, Azam Ahmadi, Mohammad Arjomandzadegan, Maryam Sahraei, Sara Khalili, Taha Fereydouni, Zoha Khademi
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
http://creativecommons.org/licenses/by-nc/4.0
