title: The role of the fat mass and obesity associated gene (FTO) in breast cancer risk.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: 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. v-kaklamani@northwestern.edu
authors.forename: Virginia
authors.initials: V
authors.lastname: Kaklamani
authors.forename: Nengjun
authors.initials: N
authors.lastname: Yi
authors.forename: Maureen
authors.initials: M
authors.lastname: Sadim
authors.forename: Kalliopi
authors.initials: K
authors.lastname: Siziopikou
authors.forename: Kui
authors.initials: K
authors.lastname: Zhang
authors.forename: Yanfei
authors.initials: Y
authors.lastname: Xu
authors.forename: Sarah
authors.initials: S
authors.lastname: Tofilon
authors.forename: Surbhi
authors.initials: S
authors.lastname: Agarwal
authors.forename: Boris
authors.initials: B
authors.lastname: Pasche
authors.forename: Christos
authors.initials: C
authors.lastname: Mantzoros
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000071516:Alpha-Ketoglutarate-Dependent Dioxygenase FTO; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D007438:Introns; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics* / Q000502:physiology; D012306:Risk
chemical_list: D011506:Proteins; D000071516:Alpha-Ketoglutarate-Dependent Dioxygenase FTO; C526492:FTO protein, human