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伊拉克库尔德地区结直肠癌患者中、和突变的分子鉴定。

Molecular identification of , , and mutations in colorectal cancer patients from the Kurdistan region of Iraq.

作者信息

Hamasharif Hamad Gihan

机构信息

Department of General Science, College of Basic Education, Salahaddin University Erbil, Kurdistan Region of Iraq.

出版信息

Mol Biol Res Commun. 2025;14(4):259-269. doi: 10.22099/mbrc.2025.53059.2144.

Abstract

Colorectal cancer (CRC) emerged due to genetic mutations that fuel tumor development and influence patient outcomes. This research investigates , , and mutations in Iraqi Kurdish patients to assess their biological relevance and impact on clinical outcomes. Clinical and pathological data were collected from 150 patients' medical profiles. DNA was extracted from FFPE samples for , , and mutation analysis. Variations in and 600/601 were identified by polymerase chain reaction (PCR) amplification followed by hybridization assays. Real-time PCR was utilized to detect mutations. Tumors were predominantly located in the colon (80%) and classified as adenocarcinomas (88%), with stage III being the most frequent (36%). Metastases were observed in 72.67% of cases, primarily in the liver (46.67%). mutations were identified in 37.33% of cases (mainly in codons 12 and 13), while V600E mutations occurred in 10.67%, and mutations were detected in 18.67%, with exon 9 alterations more common than those in exon 20. mutations were strongly associated with liver metastases (=0.006), and mutations correlated with peritoneal metastases (=0.0001). Co-mutations of and appeared in 7.33% of cases, while and co-mutations were rarer (1.3%). Our study underscores the complexity of CRC and the pivotal role of , , and variations in tumor progression and outcomes in Iraq's Kurdistan Region, highlighting the importance of molecular profiling in clinical care.

摘要

结直肠癌(CRC)是由驱动肿瘤发展并影响患者预后的基因突变引起的。本研究调查伊拉克库尔德患者中的 、 和 突变,以评估其生物学相关性及其对临床结局的影响。从150例患者的病历中收集临床和病理数据。从福尔马林固定石蜡包埋(FFPE)样本中提取DNA用于 、 和 突变分析。通过聚合酶链反应(PCR)扩增,随后进行杂交检测,来鉴定 和 600/601的变异。利用实时PCR检测 突变。肿瘤主要位于结肠(80%),并被分类为腺癌(88%),其中III期最为常见(36%)。在72.67%的病例中观察到转移,主要转移至肝脏(46.67%)。在37.33%的病例中鉴定出 突变(主要在密码子12和13),而 V600E突变发生在10.67%的病例中,在18.67%的病例中检测到 突变,外显子9的改变比外显子20更常见。 突变与肝转移密切相关( =0.006), 突变与腹膜转移相关( =0.0001)。 和 的共突变出现在7.33%的病例中,而 和 的共突变较少见(1.3%)。我们的研究强调了结直肠癌的复杂性以及 、 和 变异在伊拉克库尔德地区肿瘤进展和结局中的关键作用,突出了分子谱分析在临床护理中的重要性。

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