A5060089771- BRCA gene mutations in cancer
- DNA Repair Mechanisms
- Nutrition, Genetics, and Disease
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Lung Cancer Treatments and Mutations
- MicroRNA in disease regulation
- PARP inhibition in cancer therapy
- Cancer-related molecular mechanisms research
- Genomic variations and chromosomal abnormalities
- CRISPR and Genetic Engineering
- Circular RNAs in diseases
- Ovarian cancer diagnosis and treatment
- Colorectal Cancer Treatments and Studies
- Cancer-related Molecular Pathways
- Genetic Associations and Epidemiology
- Prostate Cancer Treatment and Research
- Cancer Risks and Factors
- Molecular Biology Techniques and Applications
- Epigenetics and DNA Methylation
- Wnt/β-catenin signaling in development and cancer
- Genomics and Chromatin Dynamics
- Gene expression and cancer classification
- Cancer-related gene regulation
- Cholangiocarcinoma and Gallbladder Cancer Studies
Istituto Tumori Bari
2014-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2013-2024
Hudson Institute
2018
John Wiley & Sons (United States)
2018
Istituto di Genetica Molecolare
2017
National Cancer Centre Japan
2010-2011
University of Bari Aldo Moro
2008
National Cancer Institute
2007
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%...
// 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...
Epigenetic regulation, has been very scarcely explored in familial breast cancer (BC). In the present study RASSF1A and RAR beta promoter methylation miR17, miR21, miR 124, let-7a expression were investigated to highlight possible differences of epigenetic regulation between male female BC, also comparison with sporadic BC. These alterations studied 56 BC patients (27 males 29 females) 16 cases. resulted more frequently methylated men than women (76% vs. 28%, respectively, P = 0.0001), while...
To assess if mitochondrial DNA (mtDNA) variants are associated with mutations in BRCA susceptibility genes and to investigate the possible role of alterations as markers familial breast cancer (BC), 22 patients or without BRCA1/BRCA2 mutations, 14 sporadic BC 20 healthy subjects were analyzed. In D-loop MTND4 region, significantly BRCA1 carriers identified. Moreover, examination haplogroups revealed X most frequent haplogroup (P=0.005), H linked BRCA2 (P=0.05). Our data suggest involvement...
// Stefania Tommasi 1 , Rosamaria Pinto Katia Danza Brunella Pilato Orazio Palumbo 2 Lucia Micale and Simona De Summa IRCCS Istituto Tumori "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy 'Casa Sollievo della Sofferenza', Medical Unit, San Giovanni Rotondo (FG), Correspondence to: Tommasi, email: Keywords : breast cancer, BRCAness, microRNA profiling, DNA repair, miR-151-5p Received April 21, 2016 Accepted June 13, Published 30, Abstract In recent years, the assessment of...
// Katia Danza 1, * , Simona De Summa Rosamaria Pinto 1 Brunella Pilato Orazio Palumbo 2 Massimo Carella Ondina Popescu 3 Maria Digennaro 4 Rosanna Lacalamita and Stefania Tommasi IRCCS 'Giovanni Paolo II', Molecular Genetics Laboratory, Bari 70124, Italy 'Casa Sollievo della Sofferenza', Medical Unit, San Giovanni Rotondo 71013, Anatomopathology Experimental Oncology These authors have contributed equally to this work Correspondence to: Tommasi, email: stefania.tommasi@gmail.com Keywords:...
Multiple Myeloma (MM) is a B-cell malignancy in which clonal plasma cells progressively expand within the bone marrow (BM) as effect of complex interactions with extracellular matrix and number microenvironmental cells. Among these, cancer-associated fibroblasts (CAF) mediate crucial reciprocal signals MM are associated to aggressive disease poor prognosis. A large body evidence emphasizes role urokinase plasminogen activator (u-PA) its receptor u-PAR potentiating invasion capacity tumor...
Background Castration resistant prostate cancer (CRPC) represents the most aggressive status of this neoplastic disease, also characterized by absence biomarkers predictive clinical outcome. New drugs as abiraterone or enzalutamide, affecting androgen receptor pathway at different levels, inhibit proliferative advantage cells with important long term benefits. Despite advantages second‐generation deprivation therapy (ADT), resistance mechanisms, primitive acquired, often develop. The...
The BRCA1-BRCA2 genes predispose to hereditary breast and ovarian cancer, the germline mutational status of these defines a target population that can benefit from PARP inhibitor treatments. To respond increasing number tests, it is necessary shift high-throughput technologies are reliable less time consuming. Different methodological platforms dedicated this purpose with different approaches algorithms for analysis. Our aim was set up cost-effective low time-consuming mutation detection...
Vitamin D is used to reduce cancer risk and improve the outcome of patients, but vitamin receptor (VDR; also known as calcitriol receptor) pathway needs be functionally intact ensure biological effects circulating calcitriol, active form D. Besides estrogen alpha (ERα), estrogen-related (ERRα) has been shown interfere with VDR pathway, its role in antitumor transactivation activity completely unknown breast (BC). We observed that ERRα supported proliferation BC cell lines acted a...
K-RAS and BRAF gene mutations are mandatory to set anti-EGFR therapy in metastatic colorectal cancer (mCRC) patients. Due the relationship of these with tumor epigenotype, we hypothesized potential role oncosuppressor methylation genes involved K-RAS/BRAF pathway (CDKN2A, RASSF1A, RARbeta suppressor genes) inhibiting EGFR signaling cascade. Primary synchronous liver tissues 75 mCRC patients were characterized for promoter by QMSP mutations. RARbeta, CDKN2A methylated 82%, 35%, 26% primary...
Understanding of BRCA1/2 interaction with the base excision repair (BER) pathway could improve therapy based on 'synthetic lethality', whose effectiveness is homologous recombination deficiency in cells lacking functional BRCA genes. However, poly (ADP-ribose) polymerase (PARP) inhibitors failed some patients and for this reason we explored BER key enzyme expression. In study, expression enzymes (redox factor 1/apurinic-apyrimidinic endonuclease 1 (REF1/APEX1), NTH III-like (NTHL1),...
The analysis of relationships BRCA alterations with cancer at sites other than breast/ovary may provide innovative information concerning pathogenic role and support additional clinical decisions. Aim this study is to compare presence cancers in members hereditary (H) not-hereditary (nH) branches families patients eligible test. We retrospectively analyzed the incidence 136 for breast/ovarian genetic counseling Centro Studi Tumori Eredo-familiari our Institute; we compared frequency types...
Human ERBB2 presents several SNPs. One of these, Ile655Val, introduces a structural change in the transmembrane region and has been focus debate over its potential role as susceptibility marker for breast cancer risk. Another SNP, Ala1170Pro, carboxyl-terminal regulatory domain protein, but clinical biological importance remains undefined. The aim this study was to investigate association rare alleles both SNPs risk developing cancer, BRCA1 alterations clinical-pathological features...