Abstract
BackgroundBreast cancer (BC) is a genetic disorder characterized by growth and proliferation of breast cells in a disorderly. In Brazil, there are approximately 49.240 new cases of BC, every year. The BC etiology is still poorly understood. The BC can be sporadic (SBC) or hereditary (HBC). Recent studies have correlated gene polymorphisms with the BC, such as alterations in thymidylate synthase gene (TYMS), which are used to improve diagnosis and prevention of the disease. Polymorphisms in the TYMS gene 5’-UTR region, usually present reps double (2R) and/or triple (3R). Studies have shown that homozygous 3R/3R is overexpressed compared with 2R/2R genotype, and these polymorphic variations may contribute to individual susceptibility to the development of BC. In this context, the objective of this study was to evaluate the frequency of the TYMS 2R and 3R polymorphisms, comparing genotypic and allelic distribution with SBC and HBC patients.MethodsIn this study we included a total of 204 subjects, 70 with BC (33 with SBC, and 37 with HBC) and 134 healthy subjects (controls). The Polymerase Chain Reaction was the method used.ResultsResults demonstrated a high frequency of the 3R allele at BC, SBC, and HBC groups. The frequency of genotype 2R/3R was significantly higher in BC group. This work showed association between the 2R/3R variants (OR = 4.14, CI95% = 1.77-9.71) in the development of SBC, and 2R/2R (OR = 0.233, CI95% = 1.63-7.65) and 2R/3R (OR = 3.53, CI95% = 0.06-0.81) for developing HBC. To BC, there was association with the genotype 2R/3R (OR: 3.79, CI95% = 2.03-7.08).ConclusionOur results show relation to the development of BC in association with the analyzed polymorphisms.
Highlights
Breast cancer (BC) is a genetic disorder characterized by growth and proliferation of breast cells in a disorderly
A total of 204 subjects was included in this study, 70 with breast cancer (33 with Sporadic breast cancer (SBC), and 37 with hereditary breast cancer (HBC)), and 134 healthy subjects without family history of BC (Controls)
Heterozygotes genotype (2R/3R) frequencies were significantly higher in individuals with BC than in controls
Summary
Breast cancer (BC) is a genetic disorder characterized by growth and proliferation of breast cells in a disorderly. Studies have shown that homozygous 3R/3R is overexpressed compared with 2R/2R genotype, and these polymorphic variations may contribute to individual susceptibility to the development of BC. In this context, the objective of this study was to evaluate the frequency of the TYMS 2R and 3R polymorphisms, comparing genotypic and allelic distribution with SBC and HBC patients. Breast cancer (BC) is a genetic disease characterized by an out of control growing breast cells, resulting in cellular proliferation, invasion of surrounding tissues and other organs, with possibility of metastasis [1]. In recent years risk factors for BC have been identified, the etiology of the disease is still not understood. Risk factors for SBC are often hormonal [6], it may be related to other risk factors like smoking, ionizing radiation and genotoxics agents [7]
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