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Breast cancer: analysis of MTR (A2756G) and MTRR (A66G) polymorphisms of folate pathway

Grant number: 13/06398-6
Support type:Scholarships in Brazil - Scientific Initiation
Effective date (Start): July 01, 2013
Effective date (End): December 31, 2013
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal researcher:Eny Maria Goloni Bertollo
Grantee:Carlos Henrique Viesi Do Nascimento Filho
Home Institution: Faculdade de Medicina de São José do Rio Preto (FAMERP). Secretaria de Desenvolvimento Econômico (São Paulo - Estado). São José do Rio Preto , SP, Brazil


Folate metabolism may influence genetic and epigenetic changes since it plays a fundamental role in the synthesis and methylation of DNA. Some polymorphisms in genes involved in the folate pathway have been investigated as risk factors for susceptibility to breast cancer, among them, polymorphisms in MTR and MTRR genes. This study aims to investigate the frequency of polymorphisms in MTR (A2756G) and MTRR (A66G) genes in patients with breast cancer, comparing it with that observed in individuals without a history of cancer; evaluate the association of these polymorphisms with the development of breast tumors and risk factors (age, endocrine, and genetic aspects), evaluating the frequencies of polymorphisms according to the occurrence sites, extent, commitment and aggressiveness of the tumor. It will be assessed 280 individuals, 80 patients with pathologic diagnoses of breast cancer, and 200 individuals without a history of cancer. The molecular analysis will be performed with the PCR-RFLP and Real-Time PCR. Information regarding risk factors and molecular findings will be evaluated statistically. The association of these polymorphisms and clinical factors/epidemiology in women with breast cancer may help to understand the mechanisms involved in the neoplastic process, as well as collaborating in the etiology, prevention, prognosis, and treatment. (AU)

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