|
Association Between MLH1 Gene rs63749820 Polymorphism and the Risk of Breast Cancer in Northwest of Iran
|
Fatemeh Azimi1    , Sara Ghaffarian2 , Mehdi Haghi |
1- MSc student, Department of Cellular and Molecular Biology, Faculty of Sciences, Azarbaijan Shahid Madani University, Tabriz, Iran & MSc student, Department of Cellular and Molecular Biology, Faculty of Sciences, Azarbaijan Shahid Madani University, Tabriz, Iran
2- & Assistant Professor, Department of Cellular and Molecular Biology, Faculty of Sciences, Azarbaijan Shahid Madani University, Tabriz, Iran. , s.ghaffarian@azaruniv.ac.ir |
|
|
Abstract: (1235 Views) |
Background and Aim: According to the available statistics in 2020, breast cancer was the most common cancer in women. The protein encoded by the MLH1 gene is part of the mismatch repair (MMR) system. In this study, the association of rs63749820 C>T polymorphism of MLH1 gene with susceptibility to breast cancer in northwest Iran was investigated.
Materials and methods: This case-control study was conducted on 100 women with breast cancer and 100 healthy women with no history of cancer in 1st and 2nd degree relatives. Single nucleotide polymorphism was investigated by Tetra-ARMS PCR technique. The analysis of the resulting data was done using the online statistical program java stat and SPSS version 26 software.
Results: The genotypic distribution of sick and healthy people was 23.91% and 28.57% respectively for CC genotype, 11.95% and 5.10% for TT genotype and 64.13% and 66.32% respectively for CT genotype. The frequency of C allele was 55.98% and 61.73% and the frequency of T allele was 44.04% and 38.27% in patients and control subjects, respectively.
Conclusion: The findings of this research showed that there is no significant relationship between the genotypic and allelic distribution of MLH1 gene rs63749820 polymorphism with increased risk of breast cancer risk. Also, the relationship between the clinical characteristics of people with breast cancer including age, tumor grade, lymph involvement, involved side, tumor size, tumor type with the genotypic distribution of this SNP was not significant.
|
|
| Keywords: breast cancer, single nucleotide polymorphism, association study, MLH1 gene |
|
|
Full-Text [PDF 576 kb]
(277 Downloads)
|
Type of Study: Original Research |
Subject:
Molecular Medicine and Genetics
Received: 2023/02/11 | Accepted: 2024/02/6 | Published: 2024/10/29
|
|
|
|
|
|
|
| References |
1. 1. Tvorogov D, Sundvall M, Kurppa K, Hollmén M, Repo S, Johnson MS, et al. Somatic mutations of ErbB4: selective loss-of-function phenotype affecting signal transduction pathways in cancer. J Biol Chem. 2009; 284(9): 5582-5591. [ DOI:10.1074/jbc.M805438200] [ PMID] 2. NCBI, Gene, Genes and mapped phenotypes, "ERBB4 erb-b2 receptor tyrosine kinase 4 [Homo sapiens (human)]," 2018. 3. https://www.uicc.org/news/globocan-2020-new-cancer-data 4. Smit L. Berns K. An integrated genomic approach identifies that the PI3K/AKT/FOXO pathway is involved in breast cancer tumor initiation. Oncotarget. 2016; 7(3): 2596-610. [ DOI:10.18632/oncotarget.6354] [ PMID] [ ] 5. Yuan P, Liu D, Deng M. Identification of differently expressed genes with specific SNP loci for breast cancer by the integration of SNP and gene expression profiling analyses. Pathol Oncol Res. 2015; 21(2): 469-75. [ DOI:10.1007/s12253-014-9851-1] [ PMID] 6. Ma G, Ge Y, Gu D, Du M, Chu H, Chen J, et al. Functional annotation of colorectal cancer susceptibility loci identifies MLH1 rs1800734 associated with MSI patients. Gut. 2016; 65(7): 1227-1228. [ DOI:10.1136/gutjnl-2016-311543] [ PMID] 7. Takeda T, Banno K, Yanokura M, Adachi M, Iijima M, Kunitomi H, et al. Methylation Analysis of DNA mismatch repair genes using DNA derived from the peripheral blood of patients with endometrial cancer: epimutation in endometrial carcinogenesis. Genes. 2016; 7(10): 1-12. [ DOI:10.3390/genes7100086] [ PMID] [ ] 8. Malik SS, Zia A, Mubarik S, Masood N, Rashid S, Sherrard A, et al. Correlation of MLH1 polymorphisms, survival statistics, in silico assessment and gene downregulation with clinical outcomes among breast cancer cases. Mol Biol Rep. 2020; 47(1): 683-692. [ DOI:10.1007/s11033-019-05175-x] [ PMID] 9. Haghighi M, Radpour M, Aghajani R, Zali KN, Molaei M, Zali MR. Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer. Int J of Colorectal Dis. 2009; 24(8): 885-893. [ DOI:10.1007/s00384-009-0731-1] [ PMID] 10. Lynch HT, Chapelle A. Hereditary Colorectal Cancer. N Engl J Med. 2003; 348(10): 919-932. [ DOI:10.1056/NEJMra012242] [ PMID] 11. Merg A, Lynch HT, Lynch JF, Howe JR. Hereditary colorectal cancer-part II. Curr Probl Surg. 2005; 42(1): 267-333. [ DOI:10.1067/j.cpsurg.2005.02.003] [ PMID] 12. Ma Y, Chen Y, Petersen I. Expression and promoter DNA methylation of MLH1 in colorectal cancer and lung cancer. Pathol Res Pract. 2017; 213(4):333-338. [ DOI:10.1016/j.prp.2017.01.014] [ PMID] 13. Buchanan DD, Tan YY, Walsh MD, Clendenning M, Metcalf AM, Ferguson K, et al. Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for pop - ulation-level germline mismatch repair gene mutation testing. J Clin Oncol. 2014; 32(2):90. [ DOI:10.1200/JCO.2013.51.2129] [ PMID] [ ] 14. Kappil M, Terry MB, Delgado-Cruzata L, Liao Y, Santella RM. Mismatch repair polymorphisms as markers of breast can - cer prevalence in the Breast Cancer Family Registry. Anticancer Res. 2016; 36(9):4437-4441. [ DOI:10.21873/anticanres.10987] [ PMID] [ ] 15. Dowty JG, Win AK, Buchanan DD, Lindor NM, Macrae FA, Clendenning M, et al. Cancer risks for MLH 1 and MSH 2 mutation carriers. Hum Mutat. 2013; 34(3):490-497. [ DOI:10.1002/humu.22262] [ PMID] [ ] 16. Lauren E. McCullough,Regina M. Santella,Rebecca J. Cleveland,Robert C. Millikan,Andrew F. Olshan,Kari E. Polymorphisms in DNA repair genes, recreational physical activity and breast cancer risk. Int J Cancer. 2014; 134(3): 654-663. [ DOI:10.1002/ijc.28383] [ PMID] [ ] 17. Wei W, Jiang M, Luo L, Li Z, Wang P, Dong WQ. Colorectal cancer susceptibility variants alter risk of breast cancer in a Chinese Han population. Genet Mol Res. 2013; 12(4): 6268-6274. [ DOI:10.4238/2013.December.4.14] [ PMID] 18. https://www.ncbi.nlm.nih.gov/snp/rs1972820#frequency_tab 19. Sabarinathan R, Tafer H, Seemann S. RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs. Hum Mutat. 2013; 34(4): 546-56. [ DOI:10.1002/humu.22273] [ PMID] [ ] |
|
| Send email to the article author |
|
|
|
| Add your comments about this article |
|
|
|
|
Ethics code: IR.AZARUNIV.REC.1401.016
|
