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Genotyping analysis and 18FDG uptake in breast cancer patients: a preliminary research

Valentina Bravatà1*, Alessandro Stefano1, Francesco P Cammarata1, Luigi Minafra1, Giorgio Russo1, Stefania Nicolosi1, Sabina Pulizzi2, Cecilia Gelfi13, Maria C Gilardi145 and Cristina Messa156

Author Affiliations

1 IBFM CNR - LATO, Cefalù, PA, Italy

2 US of Nuclear Medicine, Fondazione Istituto “San Raffaele - G. Giglio”, Cefalù, PA, Italy

3 Department of Biomedical Sciences for Health, University of Milan, Milan, Italy

4 Nuclear Medicine, San Raffaele Scientific Institute, Milan, Italy

5 Department of Health Sciences, Tecnomed Foundation, University of Milano-Bicocca, Milan, Italy

6 Nuclear Medicine Center, San Gerardo Hospital, Monza, Italy

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Journal of Experimental & Clinical Cancer Research 2013, 32:23  doi:10.1186/1756-9966-32-23

Published: 30 April 2013



Diagnostic imaging plays a relevant role in the care of patients with breast cancer (BC). Positron Emission Tomography (PET) with 18F-fluoro-2-deoxy-D-glucose (FDG) has been widely proven to be a clinical tool suitable for BC detection and staging in which the glucose analog supplies metabolic information about the tumor. A limited number of studies, sometimes controversial, describe possible associations between FDG uptake and single nucleotide polymorphisms (SNPs). For this reason this field has to be explored and clarified. We investigated the association of SNPs in GLUT1, HIF-1a, EPAS1, APEX1, VEGFA and MTHFR genes with the FDG uptake in BC.


In 26 caucasian individuals with primary BC, whole-body PET-CT scans were obtained and quantitative analysis was performed by calculating the maximum Standardized Uptake Value normalized to body-weight (SUVmax) and the mean SUV normalized to body-weight corrected for partial volume effect (SUVpvc). Human Gene Mutation Database and dbSNP Short Genetic Variations database were used to analyze gene regions containing the selected SNPs. Patient genotypes were obtained using Sanger DNA sequencing analysis performed by Capillary Electrophoresis.


BC patients were genotyped for the following nine SNPs: GLUT1: rs841853 and rs710218; HIF-1a: rs11549465 and rs11549467; EPAS1: rs137853037 and rs137853036; APEX1: rs1130409; VEGFA: rs3025039 and MTHFR: rs1801133. In this work correlations between the nine potentially useful polymorphisms selected and previously suggested with tracer uptake (using both SUVmax and SUVpvc) were not found.


The possible functional influence of specific SNPs on FDG uptake needs further studies in human cancer. In summary, this is the first pilot study, to our knowledge, which investigates the association between a large panel of SNPs and FDG uptake specifically in BC patients. This work represents a multidisciplinary and translational medicine approach to study BC where, the possible correlation between SNPs and tracer uptake, may be considered to improve personalized cancer treatment and care.

Breast cancer; Single nucleotide polymorphisms; PET-CT; SUVmax; SUVpvc