RGD Reference Report - Can MTHFR C677T and A1298C Polymorphisms Alter the Risk and Severity of Sporadic Breast Cancer in Brazilian Women? - Rat Genome Database

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Can MTHFR C677T and A1298C Polymorphisms Alter the Risk and Severity of Sporadic Breast Cancer in Brazilian Women?

Authors: Rezende, Luciana Montes  Marson, Fernando Augusto Lima  Lima, Carmen Sílvia Passos  Bertuzzo, Carmen Sílvia 
Citation: Rezende LM, etal., Clin Breast Cancer. 2017 Jul;17(4):e199-e208. doi: 10.1016/j.clbc.2017.02.004. Epub 2017 Feb 16.
RGD ID: 38501055
Pubmed: PMID:28330681   (View Abstract at PubMed)
DOI: DOI:10.1016/j.clbc.2017.02.004   (Journal Full-text)


INTRODUCTION: 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.
PATIENTS AND METHODS: 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 χ2 test, the Fisher exact test, and the Mann-Whitney and Kruskal-Wallis tests, or parametric equivalents.
RESULTS: 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).
CONCLUSION: The MTHFR C677T and A1298C polymorphisms do not alter the risk of BC, but are associated with the clinical severity of BC.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
MTHFRHumansporadic breast cancer no_associationIAGP DNA:missense mutations:cds:g.677C>T, g.1298A>T (human)RGD 
MthfrRatsporadic breast cancer no_associationISORGD:733483DNA:missense mutations:cds:g.677C>T, g.1298A>T (human)RGD 
MthfrMousesporadic breast cancer no_associationISORGD:733483DNA:missense mutations:cds:g.677C>T, g.1298A>T (human)RGD 


Genes (Rattus norvegicus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Mus musculus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Homo sapiens)
MTHFR  (methylenetetrahydrofolate reductase)