Stefania Tommasi

Publications (106) View all

• Source

  Available from: Simona de summa

  Article: Unclassified variants in BRCA genes: guidelines for interpretation.

  P Radice, S De Summa, L Caleca, S Tommasi
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  ABSTRACT: In the last few years, several studies have focused on the interpretation of unclassified variants (UVs) of BRCA1 and BRCA2 genes. Analysis of UVs through a unique approach is not sufficient to understand their role in the development of tumors. Thus, it is clear that assembling results from different sources (genetic and epidemiological data, histopathological features, and in vitro and in silico analyses) represents a powerful way to classify such variants. Building reliable integrated models for UV classification requires the joining of many working groups to collaborative consortia, allowing data exchange and improvements of methods. This will lead to improvement in the predictivity of gene testing in BRCA1 and BRCA2 and, consequently, to an increase in the number of families that can be correctly classified as linked or unlinked to these genes, allowing more accurate genetic counseling and clinical management.
  Annals of Oncology 01/2011; 22 Suppl 1:i18-23. · 6.43 Impact Factor
• Article: Innovative technology for cancer risk analysis.

  S Tommasi, S Tommas, K Danza, B Pilato, S De Summa
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  ABSTRACT: After completion of the Human Genome Project, analysis of genetic and genomic variations in different pathological states became possible. The capillary system based on Sanger methods is still very expensive in terms of time, cost and professionalism required. For this reason, the National Human Genome Institute proposed an 'advanced sequencing technology development' project with the aim of sequencing a genome in 1 day for $1000. Three validated platforms are commercially available and single molecule sequencing methods have been recently introduced, which are not only competitive in time and costs, but display greater accuracy than 'past generation' sequencing. Next generation technology allows, in a single experiment, the identification of copy number variation and large rearrangements, or detection of fusion transcripts analysis thus permitting the evaluation of cancer risk at multiple levels (genomic, transcriptomic, proteomic, epigenetic).
  Annals of Oncology 01/2011; 22 Suppl 1:i37-43. · 6.43 Impact Factor
• Source

  Available from: Antonio Russo

  Article: Update on capecitabine alone and in combination regimens in colorectal cancer patients.

  N Silvestris, E Maiello, F De Vita, S Cinieri, D Santini, A Russo, S Tommasi, A Azzariti, G Numico, S Pisconti, D Petriella, V Lorusso, A Millaku, G Colucci
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  ABSTRACT: Capecitabine is an orally administered fluoropyrimidine carbamate which has been developed as a prodrug of 5-FU with the goal to improve its tolerability and intratumoral drug concentration. The review aims to provide an evidence-based update of clinical trials investigating the clinical efficacy, adverse-event profile, dosage and administration of this drug, alone or in combination with conventional chemotherapeutics and/or new target-oriented drugs, in the management of colorectal cancer patients.
  Cancer treatment reviews 11/2010; 36 Suppl 3:S46-55. · 5.30 Impact Factor
• Article: Microsatellite instability (MSI) as genomic markers in endometrial cancer: toward scientific evidences.

  A Tinelli, V Mezzolla, G Leo, M Pisanò, F Storelli, G Alemanno, A Malvasi, S Tommasi, G Ronzino, V Lorusso
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  ABSTRACT: Endometrial Cancer is the most frequent tumor in western world nations, with 142,000 new cases each year and 42,000 casualties. This form of cancer typically affects women between 55 and 65 years of age, and ranks fourth among female tumors. Endogenous predisposing conditions to endometrial cancer development are: late menopause, early menarche and hyperestrogenism, while hormone replacement therapy, obesity, alcohol, diabetes, and a diet rich in animal fats as well as chronic liver disease, are the exogenous factors. This tumor may also have an hereditary predisposition, as in the Lynch Syndrome or in HNPCC (Hereditary NonPolyposis Colorectal Cancer), since genetic modifications induced by the "MisMatch Repair" genes lead to a tumoral development susceptibility, not only in the colon. The phenotypical consequences of these genetic modifications may be found in the microsatellite instability (MSI) and in the loss of heterozygosity (LOH), which generate the replication errors in positive phenotypes repeats. These express the incapability to repair short nucleotide insertions or deletions, generated by a wrong DNA replication. Due to such genetic modifications, new allelic variants arise in the endometrial tissue, confirming the high degree of this genetic disorder. Recent studies showed that the MSI and LOH in endometrial cells may be associated with the possible loss in the expression of cellular control and with the possible degeneration of the cell growth phenomenon. There is also a possibility of utilizing these new genetic markers in the endometrial mucosa to study these tissues and to detect any possible neoplastic transformations, thanks to Genomics.
  Mini Reviews in Medicinal Chemistry 11/2010; 10(14):1356-65. · 2.53 Impact Factor
• Article: Changes in CpG islands promoter methylation patterns during ductal breast carcinoma progression.

  Mohammad Obaidul Hoque, Maria Prencipe, Maria Luana Poeta, Raffaela Barbano, Vanna Maria Valori, Massimiliano Copetti, Antonietta Pia Gallo, Mariana Brait, Evaristo Maiello, Adolfo Apicella, [......], Tommasi Stefania, Angelo Paradiso, Massimo Carella, Bruno Dallapiccola, Roberto Murgo, Illuminato Carosi, Michele Bisceglia, Vito Michele Fazio, David Sidransky, Paola Parrella
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  ABSTRACT: Aberrant promoter methylation of several known or putative tumor suppressor genes occurs frequently during carcinogenesis, and this epigenetic change has been considered as a potential molecular marker for cancer. We examined the methylation status of nine genes (APC, CDH1, CTNNB1, TIMP3, ESR1, GSTP1, MGMT, THBS1, and TMS1), by quantitative methylation specific PCR. Synchronous preinvasive lesions (atypical ductal hyperplasia and/or ductal carcinoma in situ) and invasive ductal breast carcinoma from 52 patients, together with pure lesions from 24 patients and 12 normal tissues paired to tumor and 20 normal breast distant from tumor were analyzed. Aberrant promoter methylation was detected in both preinvasive and invasive lesions for genes APC, CDH1, CTNNB1, TIMP3, ESR1, and GSTP1. However, hierarchical mixed model and Generalized Estimating Equations model analyses showed that only APC, CDH1, and CTNNB1 promoter regions showed a higher frequency and methylation levels in pathologic samples when compared with normal breast. Whereas APC and CTNNB1 did not show differences in methylation levels or frequencies, CDH1 showed higher methylation levels in invasive tumors as compared with preinvasive lesions (P < 0.04, Mann-Whitney test with permutation correction). The analysis of APC, CDH1, and CTNNB1 methylation status was able to distinguish between normal and pathologic samples with a sensitivity of 67% (95% confidence interval, 60-71%) and a specificity of 75% (95% confidence interval, 69-81%). Our data point to the direct involvement of APC, CDH1, and CTNNB1 promoter methylation in the early stages of breast cancer progression and suggest that they may represent a useful tool for the detection of tumor cells in clinical specimens.
  Cancer Epidemiology Biomarkers &amp Prevention 10/2009; 18(10):2694-700. · 4.12 Impact Factor