Association of single nucleotide polymorphisms rs63751445 of the MSH2 gene and rs863224614 of the MSH6 gene with susceptibility to breast cancer in samples from Northeast Brazil

Authors

DOI:

https://doi.org/10.33448/rsd-v9i9.7007

Keywords:

Breast cancer; Mismatch repair mechanism; Single nucleotide polymorphism; DSASP; Genotyping.

Abstract

Breast cancer (BC) is the cancer with the greatest epidemiological impact on the female population worldwide. The disease has a multifactorial etiology, with genetic implications that are not fully understood. In this context, genetic changes in the mismatch repair mechanism are notable for their potential relationship with BC, especially the single nucleotide polymorphisms (SNPs), which are the most common type of genetic variation. The aim of this study was to evaluate for the first time the influence of the SNPs rs63751445 (A>G) of the MSH2 gene and rs863224614 (T>G) of the MSH6 gene for susceptibility to CM. For that, 100 samples obtained by histopathological examination of patients from the Northeast region of Brazil were used. The methodology used was the Didesoxy Single Allele Specific PCR (DSASP) method. Statistical analysis was performed by comparison with the control population (population in Hardy-Weinberg equilibrium) using Pearson's Chi-square and Fischer's exact tests. It was concluded that these two SNPs may be associated with susceptibility to BC in the studied population.

Author Biography

Evaldo Hipólito de Oliveira, Federal University of Piauí

Centro de Ciências da Saúde
Curso de Farmácia

Disciplinas de Microbiologia Clínica e Imunologia Clínica

References

Azevedo, D. B., Moreira, J. C., Gouveia, P. A., Tobias, G. C. & Neto, O. L. M. (2017). Perfil das mulheres com câncer de mama. Rev enferm UFPE on line, 11(6), 2264-2272.

Calixto, P. S., Lopes, O. S., Maia, M. S., Herrero, S., Longui, C. A., Melo, C., Carvalho Filho, I. R., Soares, L. F., Medeiros, A. C., Delatorre, P., Khayat, A. S., Burbano, R. R. & Lima, E. M. (2018). Single-Nucleotide Polymorphisms of the MSH2 and MLH1 Genes, Potential Molecular Markers for Susceptibility to the Development of Basal Cell Carcinoma in the Brazilian Population. Pathology oncology research: POR, 24(3), 489–496.

Fagny, M., Platig, J., Kuijjer, M. L., Lin, X. & Quackenbush, J. (2019). Nongenic cancer-risk SNPs affect oncogenes, tumour-suppressor genes, and immune function. British Journal of Cancer, 122(4), 569 - 577.

Kamińska, M., Ciszewski, T., Łopacka-Szatan, K., Miotła, P. & Starosławska, E. (2015). Breast cancer risk factors. Przeglad menopauzalny = Menopause review, 14 (3), 196–202.

Kappil, M., Terry, M. B., Delgado-Cruzata, L., Liao, Y. & Santella, R. M. (2016). Mismatch Repair Polymorphisms as Markers of Breast Cancer Prevalence in the Breast Cancer Family Registry. Anticancer research, 36(9), 4437–4441.

Li, S. & Martin, A. (2016). Mismatch Repair and Colon Cancer: Mechanisms and Therapies Explored. Trends in molecular medicine, 22(4), 274–289.

Li, T., Suo, Q., He, D., Du, W., Yang, M., Fan, X. & Liu, J. (2012). Esophageal cancer risk is associated with polymorphisms of DNA repair genes MSH2 and WRN in Chinese population. Journal of thoracic oncology: official publication of the International Association for the Study of Lung Cancer, 7(2), 448–452.

Lima, E. M., Lopes, O. S., Soares, L. F., Arruda, T. D. Gigek, C. O., Melo, C. G. F., Smith, M. A. C., Oliveira, J. R. G., Medeiros, A., Delatorre, P. & Burbano, R. R. (2015). Dideoxy single allele-specific PCR - DSASP new method to discrimination allelic. Brazilian Archives of Biology and Technology, 58(3), 414-420.

Martín-López, J. V. & Fishel, R. (2013). The mechanism of mismatch repair and the functional analysis of mismatch repair defects in Lynch syndrome. Familial cancer, 12(2), 159–168.

Pinheiro, A. B., Lauter, D. S., Medeiros, G. C., Cardozo, I. R., Menezes, L. M., Souza, R. M. B., Abrahão, K., Casado, L., Bergmann, A. & Thuler, L. C. S. (2013). Breast Cancer in Young Women: Analysis of 12,689 Cases. Revista Brasileira De Cancerologia, 59 (3), 351-359.

Rath, M., Li, Q., Li, H., Lindström, S., Miron, A., Miron, P., Dowton, A. A., Meyer, M. E., Larson, B. G., Pomerantz, M., Seo, J. H., Collins, L. C., Vardeh, H., Brachtel, E., Come, S. E., Borges, V., Schapira, L., Tamimi, R. M., Partridge, A. H., Freedman, M. & Ruddy, K. J. (2020). Correction: Evaluation of significant genome-wide association studies risk-SNPs in young breast cancer patients. PloS one, 15(3), e0230529.

Santos, L. S., Gomes, B. C., Bastos, H. N., Gil, O. M., Azevedo, A. P., Ferreira, T. C., Limbert, E., Silva, S. N. & Rueff, J. (2019). Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes. Genes, 10(8), 586-617.

Santos, L. S., Silva, S. N., Gil, O. M., Ferreira, T. C., Limbert, E. & Rueff, J. (2018). Mismatch repair single nucleotide polymorphisms and thyroid cancer susceptibility. Oncology letters, 15(5), 6715–6726.

Shi, S. R., Cote, R. J., Wu, L., Liu, C., Datar, R., Shi, Y., Liu, D., Lim, H. & Taylor, C. R. (2002). DNA extraction from archival formalin-fixed, paraffin-embedded tissue sections based on the antigen retrieval principle: heating under the influence of pH. The journal of histochemistry and cytochemistry: official journal of the Histochemistry Society, 50(8), 1005–1011.

Silva, F. C. C., Valentin, M. D., Ferreira, F. O., Carraro, D. M. & Rossi, B. M. (2009). Mismatch repair genes in Lynch syndrome: a review. Sao Paulo Medical Journal, 127(1), 46-51.

Sun, M. Z., Ju, H. X., Zhou, Z. W., Jin, H. & Zhu, R. (2014). Single nucleotide polymorphisms of DNA mismatch repair genes MSH2 and MLH1 confer susceptibility to esophageal cancer. International journal of clinical and experimental medicine, 7(8), 2329–2333.

Sun, Y. S., Zhao, Z., Yang, Z. N., Xu, F., Lu, H. J., Zhu, Z. Y., Shi, W., Jiang, J., Yao, P. P. & Zhu, H. P. (2017). Risk Factors and Preventions of Breast Cancer. International journal of biological sciences, 13(11), 1387–1397.

Tawfik, N. S. & Spruit, M. R. (2018). The SNPcurator: literature mining of enriched SNP-disease associations. Database : the journal of biological databases and curation, 2018, bay020.

Win, A. K., Hopper, J. L., Buchanan, D. D., Young, J. P., Tenesa, A., Dowty, J. G., Giles, G. G., Goldblatt, J., Winship, I., Boussioutas, A., Young, G. P., Parry, S., Baron, J. A., Duggan, D., Gallinger, S., Newcomb, P. A., Haile, R. W., Le Marchand, L., Lindor, N. M. & Jenkins, M. A. (2013). Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?. European journal of cancer (Oxford, England: 1990), 49(7), 1578–1587.

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Published

22/08/2020

How to Cite

Nascimento, A. L. do ., Maia, M. dos S., Calixto, P. da S., Araújo, M. I. F. de ., Souza, A. M. de ., Herrero, S. S. T., Oliveira, J. R. G. de ., Oliveira, E. H. de ., Nascimento, M. do S. V. do ., Lima, E. M., & Soares, L. F. (2020). Association of single nucleotide polymorphisms rs63751445 of the MSH2 gene and rs863224614 of the MSH6 gene with susceptibility to breast cancer in samples from Northeast Brazil. Research, Society and Development, 9(9), e368997007. https://doi.org/10.33448/rsd-v9i9.7007

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Section

Agrarian and Biological Sciences