Abstract
BackgroundDespite conflicting results, considerable evidence suggests the association between single nucleotide polymorphisms in MTHFR, XRCC1 and OGG1 genes and, risk of developing breast cancer. Here a case-control study is reported, including 135 breat cancer patients and 112 healthy women, all representative of Northern Sardinian population.MethodsPolymerase chain reaction/restriction fragment length polymorphism method was used to determine the genotypes of five polymorphisms: MTHFR C677T (rs1801133) and A1298C (rs1801131), XRCC1 Arg194Trp (rs1799782) and Arg399Gln (rs25487) and OGG1 Ser326Cys (rs1052133). Allelic, genotypic and haplotype association analyses with disease risk and clinicopathological parameters were performed.ResultsA nominally significant association with breast cancer risk was observed for MTHFR C677T polymorphism heterozygous genotype in the codominant model (OR: 0.57, 95% CI: 0.32–1.00, p = 0.049) and for Cys/Cys genotype of the OGG1 Ser326Cys polymorphism in the recessive model (OR: 0.23, 95% CI: 0.05–1.11, p = 0.0465). No significant differences were found at genotype-level for A1298C polymorphism of the MTHFR gene and Arg194Trp and Arg399Gln of the XRCC1 gene. Furthermore, the OGG1 and XRCC1 rs25487 polymorphisms were nominally associated with PgR, Her2 status and with sporadic breast cancer, respectively.ConclusionsBased on genetic characteristics of individuals included in this study, results suggest that MTHFR CT and OGG1 Cys/Cys genotypes have a protective effect that may have an influence on breast cancer risk in a representative Northern Sardinian population.
Highlights
Despite conflicting results, considerable evidence suggests the association between single nucleotide polymorphisms in Methylenetetrahydrofolate reductase gene (MTHFR), x-ray repair cross-complementing group 1 gene (XRCC1) and 8-Oxoguanine glycosylase (OGG1) genes and, risk of developing breast cancer
The present study aimed to evaluate the role as risk factors of five genetic variants in three genes involved in methylation and DNA synthesis and in DNA repair mechanisms: the Methylenetetrahydrofolate reductase gene (MTHFR), the x-ray repair cross-complementing group 1 gene (XRCC1) and the 8-Oxoguanine glycosylase gene (OGG1)
All women taking part to the study were asked to fill in a questionnaire regarding a wide range of all known risk factors for Breast cancer (BC) development: i.e. demographic characteristics, body weight and Body mass index (BMI), reproductive-hormone profile, family history of cancer, passive and active cigarette smoking [17], lifetime alcohol use, physical activity, fruit and vegetable intake, diet composition and more
Summary
Considerable evidence suggests the association between single nucleotide polymorphisms in MTHFR, XRCC1 and OGG1 genes and, risk of developing breast cancer. The study of BC susceptibility in isolated populations - where evolutionary forces and genetic features might have amplified the effect of specific risk alleles - offers the opportunity to shed further light on the pivotal role of genetic alterations in the occurrence of cancer. In such a context, the Mediterranean island of Sardinia shows a unique high incidence of several diseases with monogenic and multifactorial inheritance [2,3,4] and represents an important case-study population for human geneticists interested in inferring the complex mapping of traits and diseases. We proposed to evaluate the possible association between these Single nucleotides polymorphisms (SNPs) of these genes and the main clinicopathological features
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