Stefania Tommasi
A5014032423- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Male Breast Health Studies
- Genetic factors in colorectal cancer
- DNA Repair Mechanisms
- Lung Cancer Treatments and Mutations
- Genomic variations and chromosomal abnormalities
- Nutrition, Genetics, and Disease
- HER2/EGFR in Cancer Research
- Epigenetics and DNA Methylation
- Melanoma and MAPK Pathways
- Cancer-related gene regulation
- RNA modifications and cancer
- Cancer-related Molecular Pathways
- Genomics and Chromatin Dynamics
- Ovarian cancer diagnosis and treatment
- Colorectal Cancer Treatments and Studies
- Breast Cancer Treatment Studies
- CRISPR and Genetic Engineering
- Cancer Risks and Factors
- Estrogen and related hormone effects
- Cutaneous Melanoma Detection and Management
- Gene expression and cancer classification
- PARP inhibition in cancer therapy
- MicroRNA in disease regulation
Istituto Tumori Bari
2015-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2015-2024
Wellcome Sanger Institute
2017
Sapienza University of Rome
2017
Istituto di Genetica Molecolare
2017
Laboratory of Molecular Genetics
2015
National Cancer Centre Japan
2010-2013
Casa Sollievo della Sofferenza
2009
Johns Hopkins University
2009
Università Campus Bio-Medico
2009
Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify risks for female carriers mutations. We investigated—for first time to our knowledge—associations common with male BRCA1/ 2 implications prediction. Materials Methods genotyped 1,802 from Consortium Investigators Modifiers by using custom Illumina OncoArray. investigated combined effects established susceptibility on constructing weighted polygenic scores (PRSs) published effect...
BackgroundGene expression profiling (GEP) studies recognized a prognostic role for tumor microenvironment (TME) in diffuse large B-cell lymphoma (DLBCL), but the routinely adoption of stromal signatures remains limited.Patients and methodsHere, we applied computational method CIBERSORT to generate 1028-gene matrix incorporating 17 immune cytotypes. Then, carried out deconvolution on publicly available GEP data 482 untreated DLBCLs reveal associations between clinical outcomes proportions...
A recent comprehensive whole genome analysis of a large breast cancer cohort was used to link known and novel drivers substitution signatures the transcriptome 266 cases. Here, we validate that subtype-specific aberrations show concordant expression changes for, for example, TP53, PIK3CA, PTEN, CCND1 CDH1. We find CCND3 levels do not correlate with amplification, while increased GATA3 in mutant cancers suggests is an oncogene. In luminal cases total number substitutions, irrespective type,...
NGS technology represents a powerful alternative to the standard Sanger sequencing in context of clinical setting. The proprietary software that are generally used for variant calling often depend on preset parameters may not fit satisfactory manner different genes. GATK, which is widely academic world, rich calling. However self-adjusting parameter calibration GATK requires data from large number exomes. When these available, condition diagnostic laboratory, must be set by operator (hard...
Obesity is associated with an increased risk of developing breast cancer (BC) and worse prognosis in BC patients, yet its impact on biology remains understudied humans. This study investigates how the untreated primary differs according to patients' body mass index (BMI) using data from >2,000 patients. We identify several genomic alterations that are differentially prevalent overweight or obese patients compared lean report evidence supporting ageing accelerating effect obesity at genetic...
Abstract The antineoplastic effect of paclitaxel is mainly related to its ability bind the β subunit tubulin, thus preventing tubulin chain depolarization and inducing apoptosis. relevance Class I β‐tubulin characteristics have also been confirmed in clinical setting where mutations paclitaxel‐binding site resistance non small cell lung ovarian cancers. In present study, we verified hypothesis a relationship between molecular alterations sensitivity panel breast lines with different drug IC...
Abstract Purpose: In an effort to additionally determine the global patterns of CpG island hypermethylation in sporadic breast cancer, we searched for aberrant promoter methylation at 10 gene loci 54 primary cancer and benign lesions. Experimental Design: Genomic DNA sodium bisulfate converted from malignant tissues was used as template methyl-specific PCR BRCA1, p16, ESR1, GSTP1, TRβ1, RARβ2, HIC1, APC, CCND2, CDH1 genes. Results: The majority (85%) showed least 1 tested with half them...
Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial remain unexplained. To determine whether some missing heritability is due to rare variants conferring high moderate risk, we tested for an association between c.5791C>T nonsense mutation (p.Arg1931*; rs144567652) in exon 22 FANCM gene and cancer. An analysis genotyping data from 8635 cases 6625 controls different countries yielded [odds ratio (OR) = 3.93 (95%...
Despite the search for new therapeutic strategies gastric cancer (GC), there is much evidence of progression due to resistance chemotherapy. Multidrug (MDR) ability cells survive after exposure chemotherapeutic agents. The involvement miRNAs in development MDR has been well described but able modulate sensitivity chemotherapy by regulating hypoxia signaling pathways have not yet fully addressed GC. Our aim was analyze miR-20b, miR-27a and miR-181a expression with respect...
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 status nine (APC, CDH1, CTNNB1, TIMP3, ESR1, GSTP1, MGMT, THBS1, TMS1), by quantitative specific PCR. Synchronous preinvasive lesions (atypical ductal hyperplasia and/or carcinoma in situ) invasive breast from 52 patients, together with pure 24 patients 12...
// Katia Danza 1 , Simona De Summa Rosamaria Pinto Brunella Pilato Orazio Palumbo 2 Giuseppe Merla Gianni Simone 3 and Stefania Tommasi IRCCS "Giovanni Paolo II", Molecular Genetics Laboratory – Bari, Italy Casa Sollievo della Sofferenza, Medical Unit San Giovanni Rotondo (FG), Anatomopathology Correspondence: Tommasi, email: Keywords : miR-573, miR-578, BRCA, familial breast cancer, angiogenesis Received July 02, 2014 Accepted September 24, Published 25, Abstract The involvement of microRNA...
The still-high mortality for lung cancer urgently requires the availability of new, noninvasive diagnostic tools use in early diagnosis and screening programs. Recently, exhaled breath condensate (EBC) has been proposed as a useful tool to obtain biological information on disease. This study provides, first time, evidence that DNA alterations already described are detectable EBC from patients with non-small cell (NSCLC) healthy subjects. Thirty histologic NSCLC 20 subjects were enrolled...
The biological and prognostic role of hormone receptor status proliferative activity have been studied in two series patients affected by inflammatory breast carcinoma (IBC, 28 patients) locally advanced cancer (LABC, 50 patients). Estrogen (ER) progesterone (PgR) were measured dextran-coated charcoal (DCC) method whereas was 3H-thymidine autoradiographic labeling index (LI). percentages ER+ PgR+ cases resulted lower IBC than LABC (ER+, 44% versus 64%; PgR+, 30% 51%, respectively),...
Our group has recently demonstrated the possibility of studying microsatellite alterations (MAs) 3p in DNA exhaled breath condensate (EBC) patients with non-small cell lung cancer (NSCLC).To verify whether MAs analyzed from EBC reflect a profile present tumor tissue NSCLC.Fifty-nine subjects undergoing histologic diagnosis for clinical suspicion entered study: 41 were found to have NSCLC and 18 nonneoplastic diseases. All underwent allelotyping on whole blood, EBC, removed by analyzing panel...
The poor response to chemotherapy and the brief vemurafenib in metastatic melanoma patients, make identification of new therapeutic approaches an urgent need. Interestingly increased expression activity Aurora kinase B during progression suggests it as a promising target. efficacy inhibitor barasertib-HQPA was evaluated BRAF mutated cells, sensitive made resistant after chronic exposure drug, wild type cells. drug effectiveness has been cell growth inhibition, cycle migration. In addition,...
DNA microarray data are used to identify genes which could be considered prognostic markers. However, due the limited sample size of each study, signatures unstable in terms composing and may performances. It is therefore great interest integrate different studies, thus increasing size.In past, several studies explored issue merging, but arrival new techniques a focus on SVM based classification needed further investigation. We distant metastasis prediction attribute selection three breast...