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Open Access Highly Accessed Research article

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

Virginia Kaklamani1*, Nengjun Yi2, Maureen Sadim3, Kalliopi Siziopikou4, Kui Zhang5, Yanfei Xu6, Sarah Tofilon7, Surbhi Agarwal7, Boris Pasche8 and Christos Mantzoros9

Author affiliations

1 Cancer Genetics Program, Division of Hematology/Oncology, Department of Medicine and Robert H. Lurie Comprehensive Cancer Center, Feinberg School of Medicine, Northwestern University, 676 N St Clair st suite 850, Chicago, IL 60611,USA

2 Section on Statistical Genetics, Department of Biostatistics, School of Public Health, University of Alabama at Birmingham, 1665 University Blvd, Ryals Bldg. 317F, Birmingham, AL 35294, USA

3 Cancer Genetics Program, Division of Hematology/Oncology, Department of Medicine and Robert H. Lurie Comprehensive Cancer Center, Feinberg School of Medicine, Northwestern University, 303 E Superior Street, Chicago, IL60611, USA

4 Department of Pathology, Northwestern Memorial Hospital, 675 N St Clair st, Chicago, IL 60611, USA

5 Section on Statistical Genetics, Department of Biostatistics, School of Public Health, University of Alabama at Birmingham, 1665 University Blvd, Ryals Bldg. 327H, Birmingham, AL 35294, USA

6 Division of Hematology/Oncology, Department of Medicine and Robert H. Lurie Comprehensive Cancer Center, Feinberg School of Medicine, Northwestern University, 303 E Superior Street, Chicago, IL 60611, USA

7 Department of Medicine and Robert H. Lurie Comprehensive Cancer Center, Feinberg School of Medicine, Northwestern University, 303 E Superior Street, Chicago, IL 60611, USA

8 Division of Hematology/Oncology and Comprehensive Cancer Center, University of Alabama, 1802 6th Avenue South, NP 2566, Birmingham, AL35294, USA

9 Division of Endocrinology and Metabolism, Department of Medicine, Beth Israel Deaconess Medical Center (BIDMC), Harvard Medical School, 330 Brookline Avenue FD-876, Boston, MA 02215, USA

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Citation and License

BMC Medical Genetics 2011, 12:52  doi:10.1186/1471-2350-12-52

Published: 13 April 2011

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.