Ayu Dewi Ni Nyoman, Ni Made Pramita Widya Suksmarini, Anak Agung Ngurah Satya Pranata, A. Y. Rompis, I. W. J. Sumadi
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引用次数: 3
摘要
KRAS (Kirsten大鼠肉瘤病毒癌基因同源基因)和BRAF (v - Raf小鼠肉瘤病毒癌基因同源基因B1)基因的突变在结直肠癌治疗的原发性耐药中起重要作用。结直肠癌中约85% - 90%的KRAS突变发生在外显子2(密码子12和13),而约96%的BRAF突变发生在外显子15密码子600 (V600E)。本研究旨在确定巴厘岛结直肠癌患者KRAS和BRAF基因的患病率和突变特征。该DNA是从2017年存放在Sanglah总医院病理科的44份福尔马林固定石蜡包埋结直肠癌样本中分离出来的。采用聚合酶链反应(PCR)和直接测序法检测突变。在44个样本中,只有27个样本被成功扩增和测序。结果显示,6个样本(22.2%)在12和13密码子处发生KRAS突变(其中2个样本为G12D, 1个样本为G12V, 3个样本为G13D)。有趣的是,我们发现了3个BRAF突变样本(11.1%),其中V600E突变样本2个,V600L突变样本1个。综上所述,我们的结果表明KRAS和BRAF突变是确定的,并且是排他发生的。需要进一步的研究来确定这些突变与结直肠癌预后和化疗反应的相关性
The prevalence of KRAS and BRAF mutation in colorectal cancer patients in Bali
Mutations in the KRAS (Kirsten rat sarcoma viral oncogene homolog gene) and BRAF (v‐Raf murine sarcoma viral oncogene homolog B1) gene play a significant role in primary resistance to colorectal cancer therapy. Around 85‐90% of KRAS mutations in colorectal cancer occur in exon 2 (codon 12 and 13), whereas approximately 96% of BRAF mutations occur in exon 15 codon 600 (V600E). This study aimed to determine the prevalence and mutation characteristics of the KRAS and BRAF genes in colorectal cancer patients in Bali. The DNA was isolated from 44 formalin‐fixed paraffin‐embedded colorectal cancer samples which were stored in the Department of Pathology, Sanglah General Hospital in 2017. Detection of mutation was carried out by polymerase chain reaction (PCR) and direct sequencing. Out of 44 samples, only 27 were successfully amplified and sequenced. Our findings showed six samples (22.2%) with mutated KRAS at codons 12 and 13 (including two samples with G12D, one sample with G12V, and three samples with G13D). Interestingly, we found three samples (11.1%) of BRAF mutation, including two samples with V600E mutation and one with V600L mutation. Taken together, our results showed that KRAS and BRAF mutations were identified and occurred exclusively. Further studies are essential to identify the correlation of these mutations with colorectal cancer prognosis and response to chemotherapy