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Abstract：
BACKGROUND: 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.
CONCLUSIONS: 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.
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.
CONCLUSIONS: 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.
摘要：
背景：癌症的产生是由于关键基因中突变的积累导致不受控制的细胞分裂和避免凋亡。在这些癌基因中，BRAF是一种有效的丝裂原激活的蛋白激酶（MAPK）途径激活剂，已知通过谷氨酸在密码子600（V600E）处被缬氨酸置换进行体细胞突变。这是在各种类型的人类癌症中的常见发现，包括恶性黑色素瘤和结直肠癌（CRC），并且被认为是不良预后因素和预测生物标志物。该研究旨在确定黎巴嫩黑色素瘤和CRC患者BRAFV600E基因突变的发生率及其与性别和年龄的相关性。
方法：我们进行了一项回顾性队列设计研究，其中210和132例诊断为黑色素瘤和CRC的患者，分别,从2010年到2019年，他们从“L\'国家病理学研究所招募，其中使用特异性聚合酶链反应检测BRAF突变。从数字化记录中收集数据，包括人口统计学特征(年龄和性别)，癌症类型,和BRAF突变。使用SPSSStatistics20.0版(IBMCorp.,Armonk,NY).P值<0.05被认为是显著的。
结果：黑色素瘤中BRAF突变的发生率为88.10%。女性占主导地位，比例为2.6：1（p=0.240），大多数患者年龄在40至60岁之间（51.2％），平均年龄为53.74岁。在CRC中，BRAF以男性优势的1.2:1的比例在7.5%中突变(p=0.999)。大多数患者（54.8%）年龄在60至80岁之间，平均年龄65.5岁.
结论：BRAF是在致死性肿瘤中发现的常见致癌突变。这些癌症的靶向治疗会干扰开发更有效的治疗策略，影响BRAF突变体的治疗反应并改善患者的预后。
方法：我们进行了一项回顾性队列设计研究，其中210和132例诊断为黑色素瘤和CRC的患者，分别,从2010年到2019年，他们从“L\'国家病理学研究所招募，其中使用特异性聚合酶链反应检测BRAF突变。从数字化记录中收集数据，包括人口统计学特征(年龄和性别)，癌症类型,和BRAF突变。使用SPSSStatistics20.0版(IBMCorp.,Armonk,NY).P值<0.05被认为是显著的。
结果：黑色素瘤中BRAF突变的发生率为88.10%。女性占主导地位，比例为2.6：1（p=0.240），大多数患者年龄在40至60岁之间（51.2％），平均年龄为53.74岁。在CRC中，BRAF以男性优势的1.2:1的比例在7.5%中突变(p=0.999)。大多数患者（54.8%）年龄在60至80岁之间，平均年龄65.5岁.
结论：BRAF是在致死性肿瘤中发现的常见致癌突变。这些癌症的靶向治疗会干扰开发更有效的治疗策略，影响BRAF突变体的治疗反应并改善患者的预后。
