Εξειδίκευση τύπου :	Άρθρο σε επιστημονικό περιοδικό
Τίτλος:	Dissecting the Mutational Landscape of Cutaneous Melanoma: An Omic Analysis Based on Patients from Greece
Δημιουργός/Συγγραφέας:	Kontogianni, Georgia Piroti, Georgia Maglogiannis, Ilias [EL] Χατζηιωάννου, Αριστοτέλης[EN] Chatziioannou, Aristotelis [EL] Παπαδόδημα, Όλγα[EN] Papadodima, Olga
Ημερομηνία:	2018-03-29
ISSN:	2072-6694
DOI:	10.3390/cancers10040096
Άλλο:	29596374
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) [EL] Νεοπλάσματα. Όγκοι. Ογκολογία (περ. Καρκίνος, κακινογόνες ουσίες)[EN] Neoplasms. Tumors. Oncology (Incl.cancer, carcinogens)
Λέξεις-Κλειδιά:	FFPE SNPs bioinformatics cutaneous melanoma somatic mutations whole exome sequencing
Εμφανίζεται στις συλλογές:	Ινστιτούτο Χημικής Βιολογίας - Επιστημονικό έργο