RESEARCHOpen AccessGenotyping analysis and18FDG uptake in breastcancer patients: a preliminary researchValentina Bravatà1*, Alessandro Stefano1, Francesco P Cammarata1, Luigi Minafra1, Giorgio Russo1,Stefania Nicolosi1, Sabina Pulizzi2, Cecilia Gelfi1,3, Maria C Gilardi1,4,5and Cristina Messa1,5,6AbstractBackground: Diagnostic imaging plays a relevant role in the care of patients with breast cancer (BC). PositronEmission Tomography (PET) with 18F-fluoro-2-deoxy-D-glucose (FDG) has been widely proven to be a clinical toolsuitable 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 andsingle nucleotide polymorphisms (SNPs). For this reason this field has to be explored and clarified. We investigatedthe association of SNPs in GLUT1, HIF-1a, EPAS1, APEX1, VEGFA and MTHFR genes with the FDG uptake in BC.Methods: In 26 caucasian individuals with primary BC, whole-body PET-CT scans were obtained and quantitativeanalysis 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 GeneMutation Database and dbSNP Short Genetic Variations database were used to analyze gene regions containing theselected SNPs. Patient genotypes were obtained using Sanger DNA sequencing analysis performed by CapillaryElectrophoresis.Results: 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 previouslysuggested with tracer uptake (using both SUVmax and SUVpvc) were not found.Conclusions: The possible functional influence of specific SNPs on FDG uptake needs further studies in humancancer. In summary, this is the first pilot study, to our knowledge, which investigates the association between alarge panel of SNPs and FDG uptake specifically in BC patients. This work represents a multidisciplinary andtranslational medicine approach to study BC where, the possible correlation between SNPs and tracer uptake, maybe considered to improve personalized cancer treatment and care.Keywords: Breast cancer, Single nucleotide polymorphisms, PET-CT, SUVmax, SUVpvcBackgroundBreast cancer (BC) is the leading cause of cancer-relateddeath in women world-wide [1] and presents distinctsubtypes associated with different clinical outcomes.Understanding this heterogeneity represents a key factorfor the development of targeted preventive and thera-peutic interventions [2-4]. Upon cancer disease occur-rence, survival outcomes seem to be dependent not onlyon the histological type but also on the intensity oflesion measured by18F-fluoro-2-deoxy-D-glucose Posi-tron Emission Tomography (FDG PET) uptake [5]. FDGPET is a non-invasive diagnostic and prognostic toolthat assess tumour metabolism and it is used for treat-ment planning and the evaluation of therapy response[6]. To improve this technique, it is necessary to dis-cover deregulated tumour-specific markers that mayserve as molecular targets for the imaging of cancer [7].The completion of nine large genome-wide associationstudies[8,9]introducedsingle-nucleotidepolymor-phisms (SNPs) as risk factors for BC disease [10]. Des-pite considerable progress, their commercial exploitation* Correspondence: valentina.bravata@polooncologicocefalu.it1IBFM CNR - LATO, Cefalù, PA, ItalyFull list of author information is available at the end of the article© 2013 Bravatà et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the CreativeCommons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, andreproduction in any medium, provided the original work is properly cited.Bravatà et al. Journal of Experimental & Clinical Cancer Research 2013, 32:23http://www.jeccr.com/content/32/1/23
