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Published in: BMC Medical Genetics 1/2011

Open Access 01-12-2011 | Research article

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

Authors: Virginia Kaklamani, Nengjun Yi, Maureen Sadim, Kalliopi Siziopikou, Kui Zhang, Yanfei Xu, Sarah Tofilon, Surbhi Agarwal, Boris Pasche, Christos Mantzoros

Published in: BMC Medical Genetics | Issue 1/2011

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Abstract

Background

Obesity has been shown to increase breast cancer risk. FTO 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.

Methods

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 FTO 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.

Results

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 FTO 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.

Conclusion

In conclusion we have shown a significant expression of FTO in malignant and normal breast tissue and that FTO SNPs in intron 1 are significantly associated with breast cancer risk. Furthermore, these FTO SNPs are powerful classifiers in predicting breast cancer risk.
Appendix
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Metadata
Title
The role of the fat mass and obesity associated gene (FTO) in breast cancer risk
Authors
Virginia Kaklamani
Nengjun Yi
Maureen Sadim
Kalliopi Siziopikou
Kui Zhang
Yanfei Xu
Sarah Tofilon
Surbhi Agarwal
Boris Pasche
Christos Mantzoros
Publication date
01-12-2011
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2011
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-12-52

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