Εξειδίκευση τύπου :	Άρθρο σε επιστημονικό περιοδικό
Τίτλος:	A Comprehensive Analysis of Cutaneous Melanoma Patients in Greece Based on Multi-Omic Data
Δημιουργός/Συγγραφέας:	Kontogianni, Georgia [EL] Βουτετάκης, Κωνσταντίνος[EN] Voutetakis, Konstantinos Piroti, Georgia Kypreou, Katerina Stefanaki, Irene Vlachavas, Efstathios Iason Pilalis, Eleftherios Stratigos, Alexander [EL] Χατζηιωάννου, Αριστοτέλης[EN] Chatziioannou, Aristotelis [EL] Παπαδόδημα, Όλγα[EN] Papadodima, Olga
Ημερομηνία:	2023-01-28
Γλώσσα:	Αγγλικά
ISSN:	2072-6694
DOI:	10.3390/cancers15030815
Άλλο:	36765773
Περίληψη:	Cutaneous melanoma (CM) is the most aggressive type of skin cancer, and it is characterised by high mutational load and heterogeneity. In this study, we aimed to analyse the genomic and transcriptomic profile of primary melanomas from forty-six Formalin-Fixed, Paraffin-Embedded (FFPE) tissues from Greek patients. Molecular analysis for both germline and somatic variations was performed in genomic DNA from peripheral blood and melanoma samples, respectively, exploiting whole exome and targeted sequencing, and transcriptomic analysis. Detailed clinicopathological data were also included in our analyses and previously reported associations with specific mutations were recognised. Most analysed samples (43/46) were found to harbour at least one clinically actionable somatic variant. A subset of samples was profiled at the transcriptomic level, and it was shown that specific melanoma phenotypic states could be inferred from bulk RNA isolated from FFPE primary melanoma tissue. Integrative bioinformatics analyses, including variant prioritisation, differential gene expression analysis, and functional and gene set enrichment analysis by group and per sample, were conducted and molecular circuits that are implicated in melanoma cell programmes were highlighted. Integration of mutational and transcriptomic data in CM characterisation could shed light on genes and pathways that support the maintenance of phenotypic states encrypted into heterogeneous primary tumours.
Τίτλος πηγής δημοσίευσης:	Cancers
Τόμος/Κεφάλαιο:	15
Τεύχος:	3
Θεματική Κατηγορία:	[EL] Νεοπλάσματα. Όγκοι. Ογκολογία (περ. Καρκίνος, κακινογόνες ουσίες)[EN] Neoplasms. Tumors. Oncology (Incl.cancer, carcinogens) [EL] Βιοπληροφορική[EN] Bioinformatics [EL] Γενετική[EN] Genetics [EL] Βιοχημεία[EN] Biochemistry
Λέξεις-Κλειδιά:	Bioinformatics Cutaneous melanoma FFPE RNA sequencing SNPs Somatic mutations Whole exome sequencing
EU Grant:	TRANSlating the complexIty of melanoma diagnosis into raTional therapeutic stratificatiON Reinforcement of Postdoctoral Researchers—2nd Cycle
EU Grant identifier:	MIS 5031295 MIS-5033021
Κάτοχος πνευματικών δικαιωμάτων:	© 2023 by the authors. Licensee MDPI, Basel, Switzerland.
Όροι και προϋποθέσεις δικαιωμάτων:	This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https:// creativecommons.org/licenses/by/ 4.0/).
Ηλεκτρονική διεύθυνση στον εκδότη (link):	https://www.mdpi.com/2072-6694/15/3/815
Εμφανίζεται στις συλλογές:	Ινστιτούτο Χημικής Βιολογίας - Επιστημονικό έργο