Associação do polimorfismo rs16953002 do gene fto em pacientes com câncer de mama: estudo de caso-controle em mulheres do nordeste brasileiro

Abstract

Breast neoplasms have high incidence and mortality rates in Brazil and around the world. The RS16953002 polymorphism has been gaining importance due to the FTO gene being involved in the pathogenic process of several tumors. FTO is a 2-oxoglutarate-dependent DNA demethylalase and may play an important role in DNA repair. Furthermore, because Breast Cancer (BC) has a high incidence, and several factors are interconnected with the risk of this neoplasm, obesity being one of them and correlated with the FTO gene, it is essential to assess the risk of BC in Brazilian women about SNP RS16953002. Furthermore, there is a lack of relevant work evaluating this polymorphism in South America. The objective was to evaluate the risk of SNP RS16953002 of the FTO gene in patients with CM and tall women. This is an observational, case-control, cross-sectional study among 46 women with a histopathological diagnosis of BC and 41 healthy women. The patients were interviewed to collect epidemiological data using a questionnaire. At the end of the interview, oral scrapings were collected using a “cytobrush®” brush in both groups. The samples obtained were stored at –80ºC to remove genomic DNA using the real-time PCR technique at the Laboratory of Biotechnology and Reproduction Physiology (LABIREP). There was no statistical difference between the mean age between the groups, around 78.2% (n = 36) of patients with CM were between 41 and 69 years of age. There was no statistical difference between the age at menarche and menopause between the groups. There was a statistical difference in relation to the family history of patients with CM and consistency (p = 0.039). Finally, a risk of BC was not found in patients who carried the A/A genotype compared to the G/G genotype, OR 1.16 (95% CI: 0.41 – 3.26; p = 0.77) . It is necessary to carry out more research nationwide with the specific purpose of elucidating the population's genetic data, as little is known regarding the genetic risk factors for BC in Brazilian women. With this, it will be possible to better target the patient according to the genomic variation they present. In addition to these future studies, we will be able to determine an oncological marker that can assist in the early diagnosis and development of breast neoplasms.