scholarly journals Molecular spectrum of KRAS, NRAS, BRAF, PIK3CA, TP53, and APC somatic gene mutations in Arab patients with colorectal cancer: determination of frequency and distribution pattern

2016 ◽  
Vol 7 (6) ◽  
pp. 882-902 ◽  
Author(s):  
Humaid O. Al-Shamsi ◽  
Jeremy Jones ◽  
Yazan Fahmawi ◽  
Ibrahim Dahbour ◽  
Aziz Tabash ◽  
...  
2019 ◽  
Author(s):  
Muhammad Awidi ◽  
Nidaa Ababneh ◽  
Maha Shomaf ◽  
Feras Al Fararjeh ◽  
Laila Owaidi ◽  
...  

Abstract Background A constitutively active RAS protein in the absence of stimulation of the epidermal growth factor receptor (EGFR) is the result of mutations in KRAS and NRAS genes. Mutations in the KRAS exon 2 and outside exon 2 have been found to predict the resistance to anti-EGFR monoclonal therapy. A substantial proportion of metastatic colorectal cancer cases (mCRC) exhibit RAS mutations outside KRAS exon 2, particularly in KRAS exon 3 and 4 and NRAS exons 2, 3. No data about RAS mutations outside KRAS exon 2 are available for Jordanian patients with mCRC. We aim to study the molecular spectrum, frequency, and distribution pattern of KRAS and NRAS mutations in Jordanian patients with mCRC. Methods A cohort of 190 Jordanian metastatic colorectal cancer patients were enrolled in the trial. We detected mutations in exon 2 of the KRAS and NRAS gene as well as mutations outside of exon 2 using the StripAssay technique. The KRAS StripAssay covered 29 mutations and 22 NRAS mutations. Results Mutations were observed in 92 (48.42%) cases, and KRAS exon 2 accounted for 76 cases (83.69%). KRAS G12D was the most common mutation, occurring in 18 cases, followed by KRAS G12A in 16 cases, and G12T in 13 cases. Mutations outside of KRAS exon 2 represented 16.3% of the mutated cases. Among those, 6 cases (6.48%) carried mutations in NRAS exon 2, 3 and 10 cases (10.87%) in KRAS exon 3 and 4. Conclusion The frequency of NRAS and KRAS mutations outside of exon 2 appears to be higher in Jordanian patients in comparison with patients from western countries. KRAS mutations outside of exon 2 should be tested routinely to identify patients who should not be treated with anti-EGFR antibodies.


2013 ◽  
Vol 13 (5) ◽  
pp. 359-366 ◽  
Author(s):  
Melissa Kang ◽  
Xiang J. Shen ◽  
Sangmi Kim ◽  
Felix Araujo-Perez ◽  
Joseph A. Galanko ◽  
...  

2020 ◽  
Vol 65 (12) ◽  
pp. 793-800
Author(s):  
A. N. Toropovskiy ◽  
Olga Nikolaevna Pavlova ◽  
D. A. Viktorov ◽  
A. G. Nikitin ◽  
V. V. Maslyakov

As subjects of the clinical trial, 44 samples of paraffin-fixed tissue were used from patients diagnosed with “colorectal cancer.” In the course of clinical trials, 44 samples of paraffin-fixed tissue were analyzed in two series of experiments, that is, 88 clinical-laboratory experiments were carried out, of which 48 experiments with genomic DNA samples with the established negative status of the presence of KRAS gene mutations and 40 experiments with genomic DNA samples with the established positive status of the presence of KRAS gene mutations. Analysis and evaluation of the results of clinical laboratory tests of the medical product “Kit of Reagents for Determination of the Status of KRAS Gene Mutations by PCR-RV Method in a Sample of Human Genomic DNA from Samples of Paraffin-Fixed Tissue (Test-KRAS-tissue) according to TU 21.20.23-006-97638376-2016 “confirmed that it allows to carry out qualitative determination of the status of six mutations of the twelfth codon (Gly12Asp, Gly12Ala, Gly12Arg, Gly12Val, Gly12Ser, Gly12Cys) and one mutation of the thirteenth codon (Gly13Asp) the KRAS gene by real-time allele-specific PCR in human genomic DNA sample from paraffin-fixed tissue samples, with high diagnostic sensitivity rates of 90.9% and diagnostic specificity of 95.0% with a confidence probability of 90%. Reproducibility of results is 100%, which confirms the high reliability of the set.


2001 ◽  
Vol 120 (5) ◽  
pp. A599-A599
Author(s):  
C ARNOLD ◽  
A GOEL ◽  
J CARETHERS ◽  
L WASSERMAN ◽  
C COMPTON ◽  
...  

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Sinem Tunçer ◽  
Rafig Gurbanov

AbstractObjectivesThe expression level of Vascular Endothelial Growth Factor (VEGF) is assumed as a prognostic marker for several tumor types, including colorectal cancer. Therefore, the determination of pre- and post-therapy levels of VEGF appears to have great value in the assessment of tumor prognosis. Enzyme-Linked Immunosorbent Assay (ELISA) is commonly used for the determination of serum or plasma VEGF levels, but the method is costly and time-consuming. In this study, we aimed to describe a rapid and cost-effective analysis method to discriminate VEGF overexpressing colorectal cancer-derived conditioned medium (CM).MethodsAttenuated Total Reflection (ATR)-Fourier Transform Infrared (FTIR) spectroscopy, combined with Principal Component Analysis (PCA) and Linear Discriminant Analysis (LDA), was used to differentiate VEGF overexpressing colorectal cancer cell line CM from CM obtained from the corresponding control cells which express and secrete relatively lower amount of VEGF.ResultsSamples belong to VEGF overexpressing colorectal cancer cells were clearly distinguished from the control group with very high PC scores as PC1 + PC2 = 96%. Besides, a 100% accurate distinction between these two groups was achieved by the LDA analysis.ConclusionsATR-FTIR spectroscopy combined with pattern recognition techniques was able to discriminate CM of VEGF overexpressing colorectal cancer cells with high efficiency and accuracy.


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