Can MTHFR C677T and A1298C Polymorphisms Alter the Risk and Severity of Sporadic Breast Cancer in Brazilian Women?
Polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR) modify the risk and severity of sporadic breast cancer (BC). In this context, the MTHFR C677T and A1298C polymorphisms have been associated with risk and severity of sporadic BC.



In total, 253 women with BC and 257 controls were enrolled in this study. Polymorphisms were analyzed using restriction fragment length polymorphism - polymerase chain reaction. Epidemiology, tumor characteristics, and reproductive factors were considered in the analysis. Statistical tests included the χ2test, the Fisher exact test, and the Mann-Whitney and Kruskal-Wallis tests, or parametric equivalents.



MTHFR polymorphisms were not a risk factor for BC. The 677CC genotype was associated with distant metastasis (odds ratio [OR] = 5.311; 95% confidence interval [CI] = 1.124-25.09) and lower estrogen receptor expression, whereas the 1298AA genotype was associated with stage 0 (OR = 0.244; 95% CI = 0.077-0.771) and increased estrogen receptor expression. In haplotype analysis, 677CC/1298AA was associated with hypertension (OR = 1.979; 95% CI = 1.036-3.782), and 677CT/1298AC was associated with invasive carcinoma of no special type (OR = 0.472; 95% CI = 0.243-0.918) and stage 0 (OR = 3.476; 95% CI = 1.341-10.47).



The MTHFR C677T and A1298C polymorphisms do not alter the risk of BC, but are associated with the clinical severity of BC.
Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas - Unicamp, Cidade Universitária Zeferino Vaz, Campinas/SP, Brasil. Electronic address: luciana_mrezende@hotmail.com.
Luciana Montes
LM
Rezende
Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas - Unicamp, Cidade Universitária Zeferino Vaz, Campinas/SP, Brasil; Department of Pediatrics, Faculty of Medical Sciences, State University of Campinas - Unicamp, Cidade Universitária Zeferino Vaz, Campinas/SP, Brasil. Electronic address: fernandolimamarson@hotmail.com.
Fernando Augusto Lima
FAL
Marson
Department of Internal Medicine, Faculty of Medical Sciences, State University of Campinas - Unicamp, Cidade Universitária Zeferino Vaz, Campinas/SP, Brasil.
Carmen Sílvia Passos
CSP
Lima
Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas - Unicamp, Cidade Universitária Zeferino Vaz, Campinas/SP, Brasil.
Carmen Sílvia
CS
Bertuzzo
D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor / Q000378:metabolism; D001943:Breast Neoplasms / Q000235:genetics* / Q000556:secondary*; D016022:Case-Control Studies; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011379:Prognosis; D012307:Risk Factors; D012720:Severity of Illness Index
D014408:Biomarkers, Tumor; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
Folic acid; Methylenetetrahydrofolate reductase gene; Modifier gene; Neoplasia; Susceptibility factor