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Open Access Research article

Thymidylate synthase gene (TYMS) polymorphisms in sporadic and hereditary breast cancer

José da Silva Nogueira Junior1, Fernando Augusto de Lima Marson123* and Carmen Sílvia Bertuzzo2

Author Affiliations

1 Department of Genetics, Faculty of Medical Sciences, University of Campinas, P.O. Box: 6111, Campinas, SP 13081-970, Brazil

2 Department of Pediatrics, School of Medical Sciences, University of Campinas, P.O. Box: 6111, Campinas, SP 13081-970, Brazil

3 Pediatrics Department, Medical Genetics Department, University of Campinas – UNICAMP, Campinas, Brazil

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BMC Research Notes 2012, 5:676  doi:10.1186/1756-0500-5-676

Published: 6 December 2012



Breast 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.


In 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.


Results 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).


Our results show relation to the development of BC in association with the analyzed polymorphisms.

Thymidylate synthasel; Gene polymorphisms; Breast cancer; Sporadic breast cancer; Sporadic; Hereditary breast cancer