0000000000324124

AUTHOR

Massimo Barberis

showing 5 related works from this author

BRAF as a positive predictive biomarker: Focus on lung cancer and melanoma patients

2020

In the era of personalized medicine, BRAF mutational assessment is mandatory in advanced-stage melanoma and non-small cell lung cancer (NSCLC) patients. The identification of actionable mutations is crucial for the adequate management of these patients. To date various drugs have been implemented in clinical practice. Similarly, various methods may be adopted for the identification of BRAF mutations. Here, we briefly review the current literature on BRAF in melanoma and NSCLC, focusing attention in particular on the different methods and drugs adopted in these patients. In addition, an overview of the real-world practice in different Italian laboratories with high expertise in molecular pre…

0301 basic medicineOncologyProto-Oncogene Proteins B-rafmedicine.medical_specialtyPredictive molecular pathologyLung NeoplasmsGene mutationBRAF03 medical and health scienceschemistry.chemical_compound0302 clinical medicineInternal medicineCarcinoma Non-Small-Cell LungMedicineHumansNon-Small-Cell LungVemurafenibLung cancerneoplasmsMelanomaTrametinibCobimetinibbusiness.industryBRAF; Lung cancer; Melanoma; Precision medicine; Predictive molecular pathology; Biomarkers; Humans; Mutation; Proto-Oncogene Proteins B-raf; Carcinoma Non-Small-Cell Lung; Lung Neoplasms; MelanomaCarcinomaPrecision medicineDabrafenibHematologyBiomarkerPrecision medicinemedicine.diseaseBRAF; Lung cancer; Melanoma; Precision medicine; Predictive molecular pathologyLung Neoplasm030104 developmental biologyOncologychemistry030220 oncology & carcinogenesisMutationPersonalized medicineLung cancerbusinessBiomarkersmedicine.drugHuman
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TargetPlex FFPE-Direct DNA Library Preparation Kit for SiRe NGS panel: An international performance evaluation study

2021

AimNext generation sequencing (NGS) represents a key diagnostic tool to identify clinically relevant gene alterations for treatment-decision making in cancer care. However, the complex manual workflow required for NGS has limited its implementation in routine clinical practice. In this worldwide study, we validated the clinical performance of the TargetPlex FFPE-Direct DNA Library Preparation Kit for NGS analysis. Impressively, this new assay obviates the need for separate, labour intensive and time-consuming pre-analytical steps of DNA extraction, purification and isolation from formalin-fixed paraffin embedded (FFPE) specimens in the NGS workflow.MethodsThe TargetPlex FFPE-Direct DNA Libr…

0301 basic medicineLibraryComputer scienceGenomicsComputational biologylung neoplasmsDNA sequencingPathology and Forensic Medicine03 medical and health sciences0302 clinical medicineHumansmolecular biologymolecularbiomarkers; lung neoplasms; molecular; molecular biology; pathology; tumourGene LibraryParaffin EmbeddingtumourSireClinical performancebiomarkersHigh-Throughput Nucleotide SequencingGeneral MedicineGenomicsDNA extractionParaffin embeddedlung neoplasm030104 developmental biologyWorkflow030220 oncology & carcinogenesisMutationbiomarkerpathology
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BRCA1/2 molecular assay for ovarian cancer patients: A survey through Italian departments of oncology and molecular and genomic diagnostic laboratori…

2019

In Italy, 5200 new ovarian cancers were diagnosed in 2018, highlighting an increasing need to test women for BRCA1/2. The number of labs offering this test is continuously increasing. The aim of this study was to show the results coming from the intersociety survey coordinated by four different Clinical and Laboratory Italian Scientific Societies (AIOM, SIAPEC-IAP, SIBIOC, and SIGU). A multidisciplinary team belonging to the four scientific societies drew up two different questionnaires: One was targeted toward all Italian Departments of Medical Oncology, and the second toward laboratories of clinical molecular biology. This survey was implemented from September 2017 to March 2018. Seventy-…

0301 basic medicineOncologymedicine.medical_specialtyGenetic counselingClinical BiochemistrySomatic BRCAMultidisciplinary teamArticle03 medical and health sciences0302 clinical medicineInternal medicinePARP-1imedicine<i>brca1/2</i> assayslcsh:R5-920business.industryBRCA1/2 assaysBRCA1/2 assayOvary cancerTest (assessment)Laboratory test030104 developmental biologyMulticenter study030220 oncology & carcinogenesisCancer geneticsPretest posttestNGSlcsh:Medicine (General)businessBRCA1/2 assays; NGS; PARP-1i; Somatic BRCA
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Next generation diagnostic algorithm in non-small cell lung cancer predictive molecular pathology: The KWAY Italian multicenter cost evaluation study

2022

Abstract Aims The KWAY project aims to investigate the economic sustainability of the up-front NGS technologies adoption in the analysis of clinically relevant molecular alterations in NSCLC patients. Methods The diagnostic workflow and the related sustained costs of five Italian referral centers were assessed in four different evolving scenarios were analyzed. For each scenario, two alternative testing strategies were evaluated: the Maximized Standard strategy and the Maximized NGS strategy. Results For each center, the robustness of obtained results was verified through a deterministic sensitivity analysis, observing the variation of total costs based on a variation of ±20 % of the input …

Predictive molecular pathologyLung NeoplasmsTotal costCostCost; NGS; NSCLC; Predictive molecular pathology; Single-gene test; Algorithms; High-Throughput Nucleotide Sequencing; Humans; Italy; Multicenter Studies as Topic; Carcinoma Non-Small-Cell Lung; Lung NeoplasmsNSCLCRobustness (computer science)Carcinoma Non-Small-Cell LungCost evaluationMedicineHumansMulticenter Studies as TopicNon-Small-Cell LungMolecular pathologybusiness.industryCarcinomaHigh-Throughput Nucleotide SequencingHematologyReliability engineeringWorkflowOncologyEconomic sustainabilityItalyNGSSingle-gene testNon small cellbusinessAlgorithms
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Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives

2019

The current availability of new Poly(ADP-ribose) Polymerase (PARP)-inhibitors for the treatment of ovarian cancer patients independently of the presence of a BRCA pathogenic variant, together with the validation of somatic test for the analysis of BRCA1/2 genes, involves the need to optimise the guidelines for BRCA testing. The AIOM-SIGU-SIBIOC-SIAPEC-IAP Italian Scientific Societies, in this position paper, recommend the implementation of BRCA testing with 2 main objectives: the first is the identification of ovarian cancer patients with higher probability of benefit from specific anticancer treatments (test for response to therapy); the second goal, through BRCA testing in the family memb…

0301 basic medicineOncologyGenetic testingendocrine system diseasesSettore MED/03 - GENETICA MEDICAMedical OncologyBiochemistrychemistry.chemical_compound0302 clinical medicineGermline mutationPARP inhibitorsTrabectedinSocieties MedicalOvarian Neoplasmsmedicine.diagnostic_testBRCA1 ProteinHematologyfemale genital diseases and pregnancy complicationsOncologyItaly030220 oncology & carcinogenesisFemalemedicine.drugHumanmedicine.medical_specialtyGenetic counselingOlaparib03 medical and health sciencesGeneticSomatic mutationsOvarian cancerMedicalInternal medicineBRCA1; BRCA2; Genetic testing; Germline mutations; Ovarian cancer; PARP inhibitors; Somatic mutations; BRCA1 Protein; BRCA2 Protein; Biochemistry; Female; Genetic Testing; Genetics; Humans; Italy; Medical Oncology; Ovarian Neoplasms; Germ-Line Mutation; Societies MedicalGeneticsmedicineGenetic predispositionHumansRucaparibGermline mutationsGerm-Line MutationGenetic testingBRCA2 Proteinbusiness.industrySomatic mutationOvarian NeoplasmCancermedicine.diseaseBRCA1BRCA2BRCA1; BRCA2; Genetic testing; Germline mutations; Ovarian cancer; PARP inhibitors; Somatic mutations030104 developmental biologyPARP inhibitorchemistrySocietiesOvarian cancerbusiness
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