伊拉克库尔德斯坦地区结直肠癌患者KRAS、BRAF和PIK3CA突变的分子鉴定

IF 1 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Hamad Gihan Hamasharif
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引用次数: 0

摘要

结直肠癌(CRC)是由于基因突变导致肿瘤发展并影响患者预后而出现的。本研究调查了伊拉克库尔德患者的KRAS、BRAF和PIK3CA突变,以评估其生物学相关性和对临床结果的影响。从150例患者的医疗档案中收集临床和病理资料。从FFPE样品中提取DNA进行KRAS、BRAF和PIK3CA突变分析。采用聚合酶链反应(PCR)扩增和杂交鉴定KRAS和BRAF 600/601基因的变异。采用Real-time PCR检测PIK3CA突变。肿瘤主要位于结肠(80%),分类为腺癌(88%),以III期最常见(36%)。72.67%的病例出现转移,主要转移到肝脏(46.67%)。KRAS突变占37.33%(主要在密码子12和13上),BRAF V600E突变占10.67%,PIK3CA突变占18.67%,其中外显子9比外显子20更常见。KRAS突变与肝转移密切相关(p=0.006), BRAF突变与腹膜转移相关(p=0.0001)。KRAS与PIK3CA共突变发生率为7.33%,BRAF与PIK3CA共突变发生率为1.3%。我们的研究强调了CRC的复杂性以及KRAS、BRAF和PIK3CA变异在伊拉克库尔德斯坦地区肿瘤进展和结局中的关键作用,强调了分子谱分析在临床护理中的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Molecular identification of KRAS, BRAF, and PIK3CA mutations in colorectal cancer patients from the Kurdistan region of Iraq.

Colorectal cancer (CRC) emerged due to genetic mutations that fuel tumor development and influence patient outcomes. This research investigates KRAS, BRAF, and PIK3CA 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 KRAS, BRAF, and PIK3CA mutation analysis. Variations in KRAS and BRAF 600/601 were identified by polymerase chain reaction (PCR) amplification followed by hybridization assays. Real-time PCR was utilized to detect PIK3CA 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%). KRAS mutations were identified in 37.33% of cases (mainly in codons 12 and 13), while BRAF V600E mutations occurred in 10.67%, and PIK3CA mutations were detected in 18.67%, with exon 9 alterations more common than those in exon 20. KRAS mutations were strongly associated with liver metastases (p=0.006), and BRAF mutations correlated with peritoneal metastases (p=0.0001). Co-mutations of KRAS and PIK3CA appeared in 7.33% of cases, while BRAF and PIK3CA co-mutations were rarer (1.3%). Our study underscores the complexity of CRC and the pivotal role of KRAS, BRAF, and PIK3CA variations in tumor progression and outcomes in Iraq's Kurdistan Region, highlighting the importance of molecular profiling in clinical care.

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来源期刊
Molecular Biology Research Communications
Molecular Biology Research Communications BIOCHEMISTRY & MOLECULAR BIOLOGY-
CiteScore
3.00
自引率
0.00%
发文量
12
期刊介绍: “Molecular Biology Research Communications” (MBRC) is an international journal of Molecular Biology. It is published quarterly by Shiraz University (Iran). The MBRC is a fully peer-reviewed journal. The journal welcomes submission of Original articles, Short communications, Invited review articles, and Letters to the Editor which meets the general criteria of significance and scientific excellence in all fields of “Molecular Biology”.
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