The role of the fat mass and obesity associated gene (FTO) in breast cancer risk

<p>Abstract</p> <p>Background</p> <p>Obesity has been shown to increase breast cancer risk. <it>FTO </it>is a novel gene which has been identified through genome wide association studies (GWAS) to be related to obesity. Our objective was to evaluate tissue expression of FTO in breast and the role of FTO SNPs in predicting breast cancer risk.</p> <p>Methods</p> <p>We performed a case-control study of 354 breast cancer cases and 364 controls. This study was conducted at Northwestern University. We examined the role of single nucleotide polymorphisms (SNPs) of intron 1 of <it>FTO </it>in breast cancer risk. We genotyped cases and controls for four SNPs: rs7206790, rs8047395, rs9939609 and rs1477196. We also evaluated tissue expression of FTO in normal and malignant breast tissue.</p> <p>Results</p> <p>We found that all SNPs were significantly associated with breast cancer risk with rs1477196 showing the strongest association. We showed that FTO is expressed both in normal and malignant breast tissue. We found that <it>FTO </it>genotypes provided powerful classifiers to predict breast cancer risk and a model with epistatic interactions further improved the prediction accuracy with a receiver operating characteristic (ROC) curves of 0.68.</p> <p>Conclusion</p> <p>In conclusion we have shown a significant expression of FTO in malignant and normal breast tissue and that <it>FTO </it>SNPs in intron 1 are significantly associated with breast cancer risk. Furthermore, these <it>FTO </it>SNPs are powerful classifiers in predicting breast cancer risk.</p