Stefania Casula

@article{Colombino2025,

title = {KRAS mutations in non-small cell lung cancer: Translational aspects, current therapies and challenges for future research},

author = {Maria Colombino and Grazia Palomba and Milena Casula and Marina Pisano and Silvia Tore and Riccardo Serra and Carlo Putzu and Giovanni Maria Fadda and Giovanni Battista Maestrale and Stefania Casula and Panagiotis Paliogiannis and Antonio Cossu and Giuseppe Palmieri},

doi = {10.1016/j.critrevonc.2025.104925},

issn = {1040-8428},

year  = {2025},

date = {2025-11-00},

journal = {Critical Reviews in Oncology/Hematology},

volume = {215},

publisher = {Elsevier BV},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Casula2023,

title = {Comparison between Three Different Techniques for the Detection of EGFR Mutations in Liquid Biopsies of Patients with Advanced Stage Lung Adenocarcinoma},

author = {Milena Casula and Marina Pisano and Panagiotis Paliogiannis and Maria Colombino and Maria Cristina Sini and Angelo Zinellu and Davide Santeufemia and Antonella Manca and Stefania Casula and Silvia Tore and Renato Lobrano and  and Antonio Cossu and Giuseppe Palmieri},

doi = {10.3390/ijms24076410},

issn = {1422-0067},

year  = {2023},

date = {2023-04-00},

journal = {IJMS},

volume = {24},

number = {7},

publisher = {MDPI AG},

abstract = {Oncogenic mutations in the EGFR gene are targets of tyrosine kinase inhibitors (TKIs) in lung adenocarcinoma (LC) patients, and their search is mandatory to make decisions on treatment strategies. Liquid biopsy of circulating tumour DNA (ctDNA) is increasingly used to detect EGFR mutations, including main activating alterations (exon 19 deletions and exon 21 L858R mutation) and T790M mutation, which is the most common mechanism of acquired resistance to first- and second-generation TKIs. In this study, we prospectively compared three different techniques for EGFR mutation detection in liquid biopsies of such patients. Fifty-four ctDNA samples from 48 consecutive advanced LC patients treated with TKIs were tested for relevant EGFR mutations with Therascreen® EGFR Plasma RGQ-PCR Kit (Qiagen). Samples were subsequently tested with two different technologies, with the aim to compare the EGFR detection rates: real-time PCR based Idylla™ ctEGFR mutation assay (Biocartis) and next-generation sequencing (NGS) system with Ion AmpliSeq Cancer Hotspot panel (ThermoFisher). A high concordance rate for main druggable EGFR alterations was observed with the two real-time PCR-based assays, ranging from 100% for T790M mutation to 94% for L858R variant and 85% for exon 19 deletions. Conversely, lower concordance rates were found between real-time PCR approaches and the NGS method (L858R: 88%; exon19-dels: 74%; T790M: 37.5%). Our results evidenced an equivalent detection ability between PCR-based techniques for circulating EGFR mutations. The NGS assay allowed detection of a wider range of EGFR mutations but showed a poor ability to detect T790M.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Tore2011,

title = {Application of a New Method for GWAS in a Related Case/Control Sample with Known Pedigree Structure: Identification of New Loci for Nephrolithiasis},

author = {Silvia Tore and Stefania Casula and Giuseppina Casu and Maria Pina Concas and Paola Pistidda and Ivana Persico and Alessandro Sassu and Giovanni Battista Maestrale and Caterina Mele and Maria Rosa Caruso and Bibiana Bonerba and Paolo Usai and Ivo Deiana and Timothy Thornton and Mario Pirastu and Paola Forabosco},

editor = {Nicholas J. Schork},

doi = {10.1371/journal.pgen.1001281},

issn = {1553-7404},

year  = {2020},

date = {2020-01-00},

urldate = {2011-01-20},

journal = {PLoS Genet},

volume = {7},

number = {1},

publisher = {Public Library of Science (PLoS)},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Gianfrancesco2003,

title = {Identification of a Novel Gene and a Common Variant Associated with Uric Acid Nephrolithiasis in a Sardinian Genetic Isolate},

author = {Fernando Gianfrancesco and Teresa Esposito and Maria Neve Ombra and Paola Forabosco and Giuseppe Maninchedda and Mauro Fattorini and Stefania Casula and Simona Vaccargiu and Giuseppina Casu and Francesco Cardia and Ivo Deiana and Paola Melis and Mario Falchi and Mario Pirastu},

doi = {10.1086/375628},

issn = {0002-9297},

year  = {2003},

date = {2003-06-00},

journal = {The American Journal of Human Genetics},

volume = {72},

number = {6},

pages = {1479--1491},

publisher = {Elsevier BV},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Ombra2001,

title = {Identification of a New Candidate Locus for Uric Acid Nephrolithiasis},

author = {Maria Neve Ombra and Paola Forabosco and Stefania Casula and Andrea Angius and Gianbattista Maestrale and Enrico Petretto and Giuseppina Casu and Giacomo Colussi and Enzo Usai and Paola Melis and Mario Pirastu},

doi = {10.1086/320105},

issn = {0002-9297},

year  = {2001},

date = {2001-05-00},

journal = {The American Journal of Human Genetics},

volume = {68},

number = {5},

pages = {1119--1129},

publisher = {Elsevier BV},

keywords = {},

pubstate = {published},

tppubtype = {article}

}