MTHFR, XRCC1 and OGG1 genetic polymorphisms in breast cancer: a case-control study in a population from North Sardinia.
BACKGROUND
Despite 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.


METHODS
Polymerase 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.


RESULTS
A 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.


CONCLUSIONS
Based 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.
['Floris|Matteo|M|', 'Sanna|Daria|D|', 'Castiglia|Paolo|P|', 'Putzu|Carlo|C|', 'Sanna|Valeria|V|', 'Pazzola|Antonio|A|', 'De Miglio|Maria Rosaria|MR|', 'Sanges|Francesca|F|', 'Pira|Giovanna|G|', 'Azara|Antonio|A|', 'Lampis|Emanuele|E|', 'Serra|Antonello|A|', 'Carru|Ciriaco|C|', 'Steri|Maristella|M|', 'Costanza|Flavia|F|', 'Bisail|Marco|M|', 'Muroni|Maria Rosaria|MR|']
D001943:Breast Neoplasms D016022:Case-Control Studies D045647:DNA Glycosylases D005260:Female D056726:Genetic Association Studies D020022:Genetic Predisposition to Disease D060005:Genotyping Techniques D006239:Haplotypes D006801:Humans D007558:Italy D042965:Methylenetetrahydrofolate Reductase (NADPH2) D008875:Middle Aged D020641:Polymorphism, Single Nucleotide D000076105:X-ray Repair Cross Complementing Protein 1
MTHFR SNPs Mediterranean population OGG1 SNPs XRCC1 SNPs