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Mutations in the BRAF, NRAS, and C-KIT Genes of Patients Diagnosed with Melanoma in Colombia Population
Joint Authors
Gutiérrez-Castañeda, Luz D.
Gamboa, Mauricio
Nova, John A.
Pulido, Leonardo
Tovar-Parra, Jose D.
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-07-23
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
Introduction.
Mutations in the BRAF, NRAS, and C-KIT genes have been associated with the histopathological characteristics of melanoma.
Likewise, the incidence of each of these subtypes changes according to the geographical origin of the population analyzed.
Objective.
To determine the mutation frequency in exons 11 and 15 of the BRAF gene, exons 1 and 2 of the NRAS gene, and exons 11, 13, and 17 of the C-KIT gene and to relate it with histological subtypes in patients from a region with high levels of ultraviolet radiation.
Methodology.
The clinicopathological characteristics of 54 cutaneous melanoma samples were analyzed.
Mutation analysis was performed via qPCR on paraffin-embedded tumor tissue samples using probes specific for the V600E mutation.
Amplification of exons 11 and 15 of the BRAF gene, exons 1 and 2 of the NRAS gene, and exons 11, 13, and 17 of the C-KIT gene was performed for subsequent sequencing using the Sanger method.
Result.
The most frequent histological subtype in the analyzed sample was lentigo maligna/lentigo maligna melanoma (52%) followed by acral lentiginous melanoma (20%).
The BRAF-V600 variant was the most frequent (63.6%).
The most frequent (54%) mutation in NRAS was p.Lys5∗.
In the C-KIT gene, only the Val560Ala mutation was found.
Conclusion.
Differences in histological subtypes and mutations in the BRAF, NRAS, and C-KIT genes were found in the analyzed population.
This indicates that environmental and genetic factors significantly influence the introduction of the disease in this geographic region.
American Psychological Association (APA)
Gutiérrez-Castañeda, Luz D.& Gamboa, Mauricio& Nova, John A.& Pulido, Leonardo& Tovar-Parra, Jose D.. 2020. Mutations in the BRAF, NRAS, and C-KIT Genes of Patients Diagnosed with Melanoma in Colombia Population. BioMed Research International،Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1132254
Modern Language Association (MLA)
Gutiérrez-Castañeda, Luz D.…[et al.]. Mutations in the BRAF, NRAS, and C-KIT Genes of Patients Diagnosed with Melanoma in Colombia Population. BioMed Research International No. 2020 (2020), pp.1-9.
https://search.emarefa.net/detail/BIM-1132254
American Medical Association (AMA)
Gutiérrez-Castañeda, Luz D.& Gamboa, Mauricio& Nova, John A.& Pulido, Leonardo& Tovar-Parra, Jose D.. Mutations in the BRAF, NRAS, and C-KIT Genes of Patients Diagnosed with Melanoma in Colombia Population. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1132254
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1132254