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Article

Dissecting the Mutational Landscape of Cutaneous Melanoma: An Omic Analysis Based on Patients from Greece

1
Metabolic Engineering and Bioinformatics Group, Institute of Biology, Medicinal Chemistry and Biotechnology, National Hellenic Research Foundation, 11635 Athens, Greece
2
Department of Digital Systems, School of Information and Communication Technologies, University of Piraeus, 18534 Piraeus, Greece
3
e-NIOS Applications Private Company, 17671 Kallithea, Greece
*
Authors to whom correspondence should be addressed.
Cancers 2018, 10(4), 96; https://doi.org/10.3390/cancers10040096
Received: 20 February 2018 / Revised: 20 March 2018 / Accepted: 27 March 2018 / Published: 29 March 2018
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. View Full-Text
Keywords: cutaneous melanoma; whole exome sequencing; somatic mutations; SNPs; FFPE; bioinformatics cutaneous melanoma; whole exome sequencing; somatic mutations; SNPs; FFPE; bioinformatics
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MDPI and ACS Style

Kontogianni, G.; Piroti, G.; Maglogiannis, I.; Chatziioannou, A.; Papadodima, O. Dissecting the Mutational Landscape of Cutaneous Melanoma: An Omic Analysis Based on Patients from Greece. Cancers 2018, 10, 96. https://doi.org/10.3390/cancers10040096

AMA Style

Kontogianni G, Piroti G, Maglogiannis I, Chatziioannou A, Papadodima O. Dissecting the Mutational Landscape of Cutaneous Melanoma: An Omic Analysis Based on Patients from Greece. Cancers. 2018; 10(4):96. https://doi.org/10.3390/cancers10040096

Chicago/Turabian Style

Kontogianni, Georgia, Georgia Piroti, Ilias Maglogiannis, Aristotelis Chatziioannou, and Olga Papadodima. 2018. "Dissecting the Mutational Landscape of Cutaneous Melanoma: An Omic Analysis Based on Patients from Greece" Cancers 10, no. 4: 96. https://doi.org/10.3390/cancers10040096

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