Mutation profile of primary subungual melanomas in Caucasians.
SMAD4
acral melanoma
melanoma
nail apparatus melanoma
subungual melanoma
Journal
Oncotarget
ISSN: 1949-2553
Titre abrégé: Oncotarget
Pays: United States
ID NLM: 101532965
Informations de publication
Date de publication:
23 Jun 2020
23 Jun 2020
Historique:
received:
28
04
2020
accepted:
01
06
2020
entrez:
9
7
2020
pubmed:
9
7
2020
medline:
9
7
2020
Statut:
epublish
Résumé
Specific genomic profile of cutaneous melanomas is related to UVR exposure, which exerts biological and therapeutic impact. Subungual melanoma (SUM) is an exceedingly rare disease; therefore, it is not well characterized. SUM pathogenesis is not related to UVR induced DNA damage and expected to differ from other melanoma subtypes. Our study aimed to define the mutation profile of SUM in Caucasians. Next-generation sequencing-based genomic analysis was used to identify frequently mutated loci in 50 cancer-related genes in 31 SUM primary tumors. The most abundant mutations in SUM were found in Our findings confirmed a high frequency of
Sections du résumé
BACKGROUND
BACKGROUND
Specific genomic profile of cutaneous melanomas is related to UVR exposure, which exerts biological and therapeutic impact. Subungual melanoma (SUM) is an exceedingly rare disease; therefore, it is not well characterized. SUM pathogenesis is not related to UVR induced DNA damage and expected to differ from other melanoma subtypes. Our study aimed to define the mutation profile of SUM in Caucasians.
MATERIALS AND METHODS
METHODS
Next-generation sequencing-based genomic analysis was used to identify frequently mutated loci in 50 cancer-related genes in 31 SUM primary tumors.
RESULTS
RESULTS
The most abundant mutations in SUM were found in
CONCLUSIONS
CONCLUSIONS
Our findings confirmed a high frequency of
Identifiants
pubmed: 32637031
doi: 10.18632/oncotarget.27642
pii: 27642
pmc: PMC7321700
doi:
Types de publication
Journal Article
Langues
eng
Pagination
2404-2413Déclaration de conflit d'intérêts
CONFLICTS OF INTEREST Declared. Rutkowski has received honoraria for lectures and Advisory Baords from MSD, BMS, Novartis, Pierre Fabre, Blueprint Medicines and Pfizer outside the scope of this study.
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