Εξειδίκευση τύπου :	Άρθρο σε επιστημονικό περιοδικό
Δημιουργός/Συγγραφέας:	Kontogianni G. Piroti G. Maglogiannis I. [EL] Χατζηιωάννου, Αριστοτέλης[EN] Chatziioannou, Aristotelis [EL] Παπαδόδημα, Όλγα[EN] Papadodima, Olga
Εκδότης:	MDPI AG
Ημερομηνία:	2018
Γλώσσα:	Αγγλικά
ISSN:	2072-6694
DOI:	10.3390/cancers10040096
Περίληψη:	Melanoma is a lethal type of skin cancer, unless it is diagnosed early. Formalin-fixed, paraffin-embedded (FFPE) tissue is a valuable source for molecular assays after diagnostic examination, but isolated nucleic acids often suffer from degradation. Here, for the first time, we examine primary melanomas from Greek patients, using whole exome sequencing, so as to derive their mutational profile. Application of a bioinformatic framework revealed a total of 10,030 somatic mutations. Regarding the genes containing putative protein-altering mutations, 73 were common in at least three patients. Sixty-five of these 73 top common genes have been previously identified in melanoma cases. Biological processes related to melanoma were affected by varied genes in each patient, suggesting differences in the components of a pathway possibly contributing to pathogenesis. We performed a multi-level analysis highlighting a short list of candidate genes with a probable causative role in melanoma.
Τίτλος πηγής δημοσίευσης:	Cancers
Τόμος/Κεφάλαιο:	10
Τεύχος:	4
Θεματική Κατηγορία:	[EL] Βιολογία (Γενικά)[EN] Biology (General)
Λέξεις-Κλειδιά:	Bioinformatics Cutaneous melanoma FFPE SNPs Somatic mutations Whole exome sequencing
Αξιολόγηση από ομότιμους (peer reviewed):	Ναι
Κάτοχος πνευματικών δικαιωμάτων:	© 2018 by the authors. Licensee MDPI, Basel, Switzerland.
Όροι και προϋποθέσεις δικαιωμάτων:	All Open Access, Gold, Green
Σημειώσεις:	General Secretariat for Research and Technology, GSRT; Ministry of Education, Lifelong Learning and Religious Affairs; European Regional Development Fund, FEDER
Εμφανίζεται στις συλλογές:	Ινστιτούτο Χημικής Βιολογίας - Επιστημονικό έργο