Tiabi Ikram, Ennaji Youssef, Abumsimir Berjas, Laraqui Abdelilah, Ennibi Khalid, Mrabti Mohammed, Alami Mohammed, Mahasneh Ihsan Ali, Benchekroun Mohammed Nabil, Ennaji Moulay Mustapha
Laboratory of Virology, Oncology, Biosciences, Environment and New Energies, Faculty of Sciences and Techniques Mohammedia, University Hassan II of Casablanca, Casablanca.
Pharmacological and Diagnostic Research Centre (PDRC), Department of Medical Laboratory Sciences, Faculty of Allied Medical Sciences, Al-Ahliyya Amman University (AAU), Amman, Jordan.
Ann Med Surg (Lond). 2023 Apr 27;85(6):2628-2634. doi: 10.1097/MS9.0000000000000685. eCollection 2023 Jun.
B-Raf proto-oncogene has been found in a variety of neoplasms. BRAF stimulation can promote tumour proliferation through the activation of the MAP/ERK kinase pathway. This study aimed to determine the germline spectra of BRAF and the association with pathological criteria of prostate tumours.
Fifty blood samples from men treated with prostate cancer were analyzed for BRAF germline mutations and confirmed by Sanger sequencing, in addition, to establishing the frequencies and clinical correlations of frequent mutations in the BRAF gene for both exon 11 and exon 15. The frequency and distribution of high-frequency mutations were analyzed according to the pathological criteria of the patients.
Frameshift mutations: c.1628_1629insA and c.1624_1625insT with a frequency of (46%) and (18%), respectively, Nonsense mutations: c.1181C>A (p.Ser394Ter) was detected in one patient, missense mutations: c.1226A>G (p.Gln409Arg), c.1270T>C (p.Trp424Arg), c.1270_1271delins2 (p.Trp424Leu), with a frequency of (4%) were detected. There was no significant difference between mutation carriers and non-carriers regarding medical and surgical history, but prostate-specific antigen concentration was significantly different between the two groups.
The results of this study elucidate the presence and involvement of germline mutations in prostate cancer, which could serve as a potential indicator for the diagnosis and therapeutic management of prostate cancer in the population studied.
B-Raf原癌基因已在多种肿瘤中被发现。BRAF刺激可通过激活MAP/ERK激酶途径促进肿瘤增殖。本研究旨在确定BRAF的种系谱以及与前列腺肿瘤病理标准的关联。
对50例接受前列腺癌治疗的男性血液样本进行BRAF种系突变分析,并通过桑格测序进行确认,此外,还确定了BRAF基因第11外显子和第15外显子常见突变的频率及临床相关性。根据患者的病理标准分析高频突变的频率和分布。
移码突变:c.1628_1629insA和c.1624_1625insT,频率分别为(46%)和(18%);无义突变:在1例患者中检测到c.1181C>A(p.Ser394Ter);错义突变:检测到c.1226A>G(p.Gln409Arg)、c.1270T>C(p.Trp424Arg)、c.1270_1271delins2(p.Trp424Leu),频率为(4%)。突变携带者和非携带者在病史和手术史方面无显著差异,但两组间前列腺特异性抗原浓度存在显著差异。
本研究结果阐明了前列腺癌种系突变的存在及参与情况,这可为所研究人群中前列腺癌的诊断和治疗管理提供潜在指标。