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

摘要: Breast cancer (BC) is a genetic disorder characterized by growth and proliferation of breast cells in disorderly. In Brazil, there are approximately 49.240 new cases BC, every year. The BC etiology still poorly understood. can be sporadic (SBC) or hereditary (HBC). Recent studies have correlated gene polymorphisms with the such as alterations thymidylate synthase (TYMS), which used to improve diagnosis prevention disease. Polymorphisms TYMS 5’-UTR region, usually present reps double (2R) and/or triple (3R). Studies shown that homozygous 3R/3R overexpressed compared 2R/2R genotype, these polymorphic variations may contribute individual susceptibility development BC. this context, objective study was evaluate frequency 2R 3R polymorphisms, comparing genotypic allelic distribution SBC HBC patients. we included total 204 subjects, 70 (33 SBC, 37 HBC) 134 healthy subjects (controls). Polymerase Chain Reaction method used. Results demonstrated high allele at groups. genotype 2R/3R significantly higher group. This work showed association between variants (OR = 4.14, CI95% 1.77-9.71) 0.233, 1.63-7.65) 3.53, 0.06-0.81) for developing HBC. To (OR: 3.79, 2.03-7.08). Our results show relation analyzed polymorphisms.