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Incidence of BRAF V600E Gene Mutation Among Lebanese Population in Melanoma and Colorectal Cancer: A Retrospective Study Between 2010 and 2019

Introduction: Cancers arise owing to the accumulation of mutations in critical genes that leads to uncontrolled cell division and the avoidance of apoptosis. Among these oncogenes, BRAF is a potent mitogen-activated protein kinase (MAPK) pathway activator known to be somatically mutated by a glutami...

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Autores principales: Masri, Rim, Al Housseiny, Amani, Aftimos, George, Bitar, Nizar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9580600/
https://www.ncbi.nlm.nih.gov/pubmed/36277559
http://dx.doi.org/10.7759/cureus.29315
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author Masri, Rim
Al Housseiny, Amani
Aftimos, George
Bitar, Nizar
author_facet Masri, Rim
Al Housseiny, Amani
Aftimos, George
Bitar, Nizar
author_sort Masri, Rim
collection PubMed
description Introduction: Cancers arise owing to the accumulation of mutations in critical genes that leads to uncontrolled cell division and the avoidance of apoptosis. Among these oncogenes, BRAF is a potent mitogen-activated protein kinase (MAPK) pathway activator known to be somatically mutated by a glutamic acid to valine substitution at codon 600 (V600E). It is a common finding in various types of human cancers, including malignant melanoma and colorectal cancer (CRC), and is considered a poor prognostic factor and a predictive biomarker. The study aims to determine the incidence of BRAF V600E gene mutation in Lebanese patients with melanoma and CRC and its correlation with gender and age. Methods: We conducted a retrospective cohort design study in which 210 and 132 patients diagnosed to have melanoma and CRC, respectively, were recruited from 2010 to 2019 from "L’Institut National de Pathologie," where a specific polymerase chain reaction is used to detect BRAF mutations. Data from digitized records were collected, including demographic characteristics (age and gender), cancer type, and BRAF mutation. The collected data were analyzed using SPSS Statistics version 20.0 (IBM Corp., Armonk, NY). A p-value < 0.05 was considered significant. Results: The incidence of BRAF mutation in melanoma is 88.10%. There is female predominance with a ratio of 2.6:1 (p = 0.240) and the majority of patients aged between 40 and 60 years (51.2%) with a mean age of 53.74 years. While in CRC, BRAF is mutated in 7.5% with a ratio of 1.2:1 of male predominance (p = 0.999). The majority of patients (54.8%) were between the ages of 60 and 80 years, with a mean age of 65.5 years. Conclusion: BRAF is a frequent oncogenic mutation that is found in lethal tumors. Targeted therapies for these cancers interfere with developing more effective therapeutic strategies, which affect the treatment response in BRAF mutants and improve the prognosis of the patients.
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spelling pubmed-95806002022-10-21 Incidence of BRAF V600E Gene Mutation Among Lebanese Population in Melanoma and Colorectal Cancer: A Retrospective Study Between 2010 and 2019 Masri, Rim Al Housseiny, Amani Aftimos, George Bitar, Nizar Cureus Pathology Introduction: Cancers arise owing to the accumulation of mutations in critical genes that leads to uncontrolled cell division and the avoidance of apoptosis. Among these oncogenes, BRAF is a potent mitogen-activated protein kinase (MAPK) pathway activator known to be somatically mutated by a glutamic acid to valine substitution at codon 600 (V600E). It is a common finding in various types of human cancers, including malignant melanoma and colorectal cancer (CRC), and is considered a poor prognostic factor and a predictive biomarker. The study aims to determine the incidence of BRAF V600E gene mutation in Lebanese patients with melanoma and CRC and its correlation with gender and age. Methods: We conducted a retrospective cohort design study in which 210 and 132 patients diagnosed to have melanoma and CRC, respectively, were recruited from 2010 to 2019 from "L’Institut National de Pathologie," where a specific polymerase chain reaction is used to detect BRAF mutations. Data from digitized records were collected, including demographic characteristics (age and gender), cancer type, and BRAF mutation. The collected data were analyzed using SPSS Statistics version 20.0 (IBM Corp., Armonk, NY). A p-value < 0.05 was considered significant. Results: The incidence of BRAF mutation in melanoma is 88.10%. There is female predominance with a ratio of 2.6:1 (p = 0.240) and the majority of patients aged between 40 and 60 years (51.2%) with a mean age of 53.74 years. While in CRC, BRAF is mutated in 7.5% with a ratio of 1.2:1 of male predominance (p = 0.999). The majority of patients (54.8%) were between the ages of 60 and 80 years, with a mean age of 65.5 years. Conclusion: BRAF is a frequent oncogenic mutation that is found in lethal tumors. Targeted therapies for these cancers interfere with developing more effective therapeutic strategies, which affect the treatment response in BRAF mutants and improve the prognosis of the patients. Cureus 2022-09-19 /pmc/articles/PMC9580600/ /pubmed/36277559 http://dx.doi.org/10.7759/cureus.29315 Text en Copyright © 2022, Masri et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Pathology
Masri, Rim
Al Housseiny, Amani
Aftimos, George
Bitar, Nizar
Incidence of BRAF V600E Gene Mutation Among Lebanese Population in Melanoma and Colorectal Cancer: A Retrospective Study Between 2010 and 2019
title Incidence of BRAF V600E Gene Mutation Among Lebanese Population in Melanoma and Colorectal Cancer: A Retrospective Study Between 2010 and 2019
title_full Incidence of BRAF V600E Gene Mutation Among Lebanese Population in Melanoma and Colorectal Cancer: A Retrospective Study Between 2010 and 2019
title_fullStr Incidence of BRAF V600E Gene Mutation Among Lebanese Population in Melanoma and Colorectal Cancer: A Retrospective Study Between 2010 and 2019
title_full_unstemmed Incidence of BRAF V600E Gene Mutation Among Lebanese Population in Melanoma and Colorectal Cancer: A Retrospective Study Between 2010 and 2019
title_short Incidence of BRAF V600E Gene Mutation Among Lebanese Population in Melanoma and Colorectal Cancer: A Retrospective Study Between 2010 and 2019
title_sort incidence of braf v600e gene mutation among lebanese population in melanoma and colorectal cancer: a retrospective study between 2010 and 2019
topic Pathology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9580600/
https://www.ncbi.nlm.nih.gov/pubmed/36277559
http://dx.doi.org/10.7759/cureus.29315
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