ArticleTumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine2015
Breast cancer risk associated with gene expression and genotype polymorphisms of the folate-metabolizing MTHFR gene: a case-control study in a high altitude Ecuadorian mestizo population.
Article in Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Association between MTHFR gene 1298A>C polymorphism and breast cancer susceptibility: a meta-analysis based on 38 case-control studies with 40,985 subjects.World journal of surgical oncology · 2016Pooled it
- Analysis of the relative risk factors for H-type hypertension and its correlation with the MTHFR C677T genotype in a health checkup population in Urumqi, China-a cross-sectional study.BMC cardiovascular disorders · 2025Article
- Genetic association and computational analysis of MTHFR gene polymorphisms rs1801131 and rs1801133 with breast cancer in the Bangladeshi population.Scientific reports · 2024Article
- The pharmacoepigenetic paradigm in cancer treatment.Frontiers in pharmacology · 2024Review
- Variants of Genes Involved in Metabolism of Folate Among Patients with Breast Cancer: Association ofIranian journal of pathology · 2021Article
- Prediction of breast cancer proteins involved in immunotherapy, metastasis, and RNA-binding using molecular descriptors and artificial neural networks.Scientific reports · 2020Article
- OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine.Scientific reports · 2020Article
- Pharmacogenomics, biomarker network, and allele frequencies in colorectal cancer.The pharmacogenomics journal · 2020Review
- Human genetics and genomics research in Ecuador: historical survey, current state, and future directions.Human genomics · 2019Article
- Deregulation of folate pathway gene expression correlates with poor prognosis in acute leukemia.Oncology letters · 2019Article
- Review
- Gene prioritization, communality analysis, networking and metabolic integrated pathway to better understand breast cancer pathogenesis.Scientific reports · 2018Article
- Analysis of Racial/Ethnic Representation in Select Basic and Applied Cancer Research Studies.Scientific reports · 2018Article
- Breast Cancer Risk Associated with Genotype Polymorphisms of the Aurora Kinase a Gene (AURKA): a Case-Control Study in a High Altitude Ecuadorian Mestizo Population.Pathology oncology research : POR · 2018Article
- Mutational Analysis of Oncogenic AKT1 Gene Associated with Breast Cancer Risk in the High Altitude Ecuadorian Mestizo Population.BioMed research international · 2018Article
- Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.Biological research · 2017Review
- State of Art of Cancer Pharmacogenomics in Latin American Populations.International journal of molecular sciences · 2017Review
- Metabolic profiling of triple-negative breast cancer cells reveals metabolic vulnerabilities.Cancer & metabolism · 2017Article
- Association ofJournal of Cancer · 2017Article
- Methylenetetrahydrofolate reductase gene C677T polymorphism and breast cancer risk: Evidence for genetic susceptibility.Meta gene · 2015Review
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Breast cancer (BC) is the leading cause of cancer-related death among women in 2014. Methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and MTR reductase (MTRR) are enzymes that play an important role in folate metabolism. The single nucleotide polymorphisms, MTHFR C677T, A1298C, MTR A2756G, and MTRR A66G, alter plasmatic folate and homocysteine concentrations, causing problems during the repairment, synthesis, and methylation of the genetic material. Therefore, it is essential to know how BC risk is associated with histopathological and immunohistochemical characteristics, genotype polymorphisms, and gene expression in a high altitude Ecuadorian mestizo population. DNA was extracted from 195 healthy and 114 affected women. Genotypes were determined by restriction enzymes and genomic sequencing. mRNA was extracted from 26 glandular breast tissue samples, both from cancerous tissue and healthy tissue adjacent to the tumor. Relative gene expression was determined with the comparative Livak method (2(-ΔΔCT)). We found significant association between the rs1801133 (A222V) genotypes and an increased risk of BC development: C/T (odds ratio [OR] = 1.8; 95 % confidence interval [CI] = 1.1-3.2; P = 0.039), T/T (OR = 2.9; 95 % CI = 1.2-7.2; P = 0.025), and C/T + T/T (OR = 1.9; 95 % CI = 1.1-3.3; P = 0.019). Regarding relative gene expression, we found significant mRNA subexpression between the combined genotypes C/T + T/T (rs1801133) and triple negative breast cancer (TNBC) (P = 0.034). In brief, the MTHFR gene and its protein could act as potential predictive biomarkers of BC, especially TNBC among the high altitude Ecuadorian mestizo population.
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