scholarly journals Deep Next Generation Sequencing Identifies Somatic Mutational Signature in Egyptian Colorectal Cancer Patients

2020 ◽  
Author(s):  
Amira Youssef ◽  
Mohamed A. Abdel-Fattah ◽  
Ahmed O. Touny ◽  
Zeinab K. Hassan ◽  
Auhood Nassar ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Disease Progression ◽  
Pathway Analysis ◽  
Somatic Mutations ◽  
Colonic Polyp ◽  
Control Group ◽  
Data Set ◽  
Inadequate Knowledge ◽  
Colorectal Cancer Patients ◽  
Atm Signaling

Abstract Background: Colorectal cancer (CRC) incidence is progressively increasing in Egypt. Unfortunately, there is inadequate knowledge of the acquired somatic mutations in Egyptian CRC patients which limit our understanding of its progression. To the best of our knowledge, our study is the first to sequence multiple-gene panel to identify the somatic mutation pattern associated with CRC disease progression in a cohort of Egyptian patients. Custom 72 genes, which are frequently associated with CRC, were sequenced using Qiaseq UMI-based targeted DNA panel in 120 fresh tissues classified into; inflammatory bowel disease (IBD; n=20), colonic polyp (CP; n=38) and CRC (n=62) as well as 20 biopsies with non-specific colitis served as a control group (n=20). Results: Using Ingenuity Variant Analysis (IVA), we revealed that APC, TP53 & ATM genes harbored the highly frequent CRC-specific somatic mutations (15, 11 & 6, respectively). We also identified common somatic mutations (predictors) that were associated with disease progression from colitis to CRC; APC (c.1742delA (65%)), TP53 (c.121delG (58%), c.215C>G (52%)), ATM (c.640delT (16%)), IGF2 (c.677delG (56%)), RET (c.2071G>A (37%)), ACVR2A (c.1310delA (26%)), PIK3CA (c.1173A>G (16%)) & KIT (c.1621A>C (13%)). Furthermore, pathway analysis using Ingenuity Pathway Analysis (IPA) showed that Wnt/βcatenin, ATM signaling, RTK-RAS and TGF-β were the most altered pathways in the CRC group (73%. 72%, 40% & 36%, respectively).Conclusion: In this data set, we shed the light on the most frequent somatic mutations and the most altered pathways that are crucial for understanding colorectal cancer predisposition and developing personalized therapies for the Egyptian CRC patients.

scholarly journals EZH2 Expression and its Correlation with Clinicopathological Features in Patients with Colorectal Carcinoma

2016 ◽  
Vol 11 (1) ◽  
pp. 287-292
Author(s):  
Xiao-yang Liu ◽  
Hua Liu ◽  
Lin Gu ◽  
Hai-lun Zheng
Keyword(s):  
Colorectal Cancer ◽  
Colorectal Carcinoma ◽  
Disease Progression ◽  
Western Blotting ◽  
Progression Free Survival ◽  
Clinicopathological Features ◽  
Tumor Biomarker ◽  
Ezh2 Expression ◽  
Significant Difference ◽  
Colorectal Cancer Patients

AbstractObjectiveTo explore the correlation between the enhancer of zeste homolog 2 (EZH2) expression and clinicopathological features in colorectal cancer patients.MethodsA total of sixty-six patients with colorectal carcinoma were admitted to our general surgery department from January 2011 to December 2014. The EZH2 expression levels in the cancer tissues (CTs) from the 66 patients with colorectal cancer and those in distant normal colorectal tissues from 30 cases were examined through immunohistochemistry and western blotting assays. The relationship between the expression of EZH2 and the clinicopathological features and prognosis of the patients was analyzed.ResultsEZH2 in colorectal carcinoma tissues is granularly brown, predominantly expressed and diffused in the nuclei of tumor cells. Positive rates of EZH2 in intestinal CTs and in distant normal intestinal tissues are 62.12% (41/66) and 6.67% (2/30), respectively with significant difference (P < 0.05). Western blotting also confirmed its elevated expression in colorectal CTs. EZH2-positive expression in CTs was related to degree of differentiation, Duke staging, and tumor size (P < 0.05) but was unrelated to the patient’s gender, age or tumor site (P = 0.05). The 3-year progression-free survival (PFS) rates of the EZH2-positive group and the EZH2-negative group were 43.8% and 67.5%, respectively. The risk of disease progression of the EZH2-positive patients in the follow-up period was significantly higher than that of the EZH2-negative patients (HR = 2.49, 95% CI = 1.04–4.80, P < 0.05).ConclusionEZH2 is closely related to colorectal carcinoma development and disease progression, and thus could be used as a tumor biomarker that may indicate prognosis.

scholarly journals Correlation between IL-10 as Cancer Biomarker and Demographic Characteristics of Colorectal Cancer Patients

2021 ◽  
pp. 1-10
Author(s):  
Rahin Sh Hamad ◽  
Bushra H. Shnawa ◽  
Shereen J. Al-Ali
Keyword(s):  
Colorectal Cancer ◽  
Pearson Correlation ◽  
Serum Levels ◽  
Interleukin 10 ◽  
Enzyme Linked Immunosorbent Assay ◽  
Control Group ◽  
High Morbidity ◽  
Serum Samples ◽  
Cancer Pathogenesis ◽  
Colorectal Cancer Patients

Colorectal cancer (CRC) is classified as one of the most prevalent cancer types worldwide, with high morbidity and mortality rates. Patients of CRC have been shown to express a detectable cytokine in serum which contributes to cancer pathogenesis. Therefore, the serum interleukin 10 (IL-10) level in CRC patients was investigated in this study. Patients' medical records with CRC admitted to the Rizgary and Nanakali hospitals, Erbil, Iraq was analyzed as the study group compared to the healthy volunteers' control group. Seventy-one serum samples were collected, thirty-one from diagnosed CRC patients and forty from healthy controls. The concentrations of IL-10 in the sera were assessed by enzyme-linked immunosorbent assay (ELISA). The present finding showed that IL-10 Was significantly elevated in CRC patients' sera compared to the control group, suggesting confirmation of its usefulness for detecting CRC patients' prognosis. A non-significant Pearson correlation was detected between IL-10 serum levels and the CRC group's age, gender, and body mass index. Herein is the first study on the evaluation of IL-10 levels in CRC patients in Kurdistan, Iraq.

Relationship between Genetic Polymorphism of CYP1A1 at Codon 462 (Ile462Val) in Colorectal Cancer

2008 ◽  
Vol 23 (1) ◽  
pp. 18-23 ◽  
Author(s):  
P.V. Pereira Serafim ◽  
I.D. Cotrim Guerreiro da Silva ◽  
N. Manoukian Forones
Keyword(s):  
Colorectal Cancer ◽  
Group Versus ◽  
Positive Association ◽  
Control Group ◽  
Case Group ◽  
Wild Type ◽  
Cancer Group ◽  
Increased Risk ◽  
Colorectal Cancer Patients ◽  
Alcohol Users

Aims and background The enzyme cytochrome P450 plays an important role in the metabolization and detoxification of various compounds. CYP1A1 is a polymorphic enzyme and some of its alleles have been correlated with an increased risk of developing various types of cancer. The aim of this study was to investigate the incidence of the polymorphism A→G (Ile462Val, exon 7) in colorectal cancer patients and the correlation of this polymorphism with others risk factors. Patients and methods 114 Brazilian patients with colorectal cancer were matched by age and sex to 114 healthy individuals. DNA was extracted from peripheral blood and the genotypes of the polymorphisms were assessed by PCR-restriction fragment length polymorphism. Results In the case group 64 subjects were male, 53 were alcohol users and 68 were smokers. In the control group 61 were male, 67 were alcohol users and 53 smokers. There were 14 subjects with wild-type homozygous A/A, 97 with heterozygous A/G, and 3 with homozygous mutated G/G in the cancer group versus 81 subjects with wild-type homozygous A/A and 33 with heterozygous A/G in the control group. The presence of the G allele (OR 5.14, 95%CI 3.15–10.80) was associated with an increased risk of colorectal cancer (p=0.001). The prevalence of smokers was higher in the cancer group (p=0.047, OR 1.71, 95%CI 1.03–3.11). Conclusion These results suggest a positive association between the A→G polymorphism and the risk of colorectal cancer. In addition, smoking was also a colorectal cancer risk. We did not find any correlation between this polymorphism and sex, grade of differentiation, stage, or evolution of the disease.

scholarly journals Composition and Concentration of Serum Fatty Acids of Phospholipids Depend on Tumour Location and Disease Progression in Colorectal Patients

2018 ◽  
Vol 37 (1) ◽  
pp. 39-45 ◽  
Author(s):  
Jolanta Bugajska ◽  
Joanna Berska ◽  
Diana Hodorowicz-Zaniewska ◽  
Krystyna Sztefko
Keyword(s):  
Colorectal Cancer ◽  
Fatty Acids ◽  
Disease Progression ◽  
Cancer Patients ◽  
Distal Colon ◽  
Unsaturation Index ◽  
Serum Levels ◽  
Colorectal Tumour ◽  
Tumour Localization ◽  
Colorectal Cancer Patients

SummaryBackground: Polyunsaturated fatty acids (PUFAs) play a role in the development/progression of colon cancer. The aim of the study was to assess the relation between serum phospholipids PUFAs, colorectal tumour localization and disease progression. Methods: A total of 67 patients (18 with proximal colon, 17 with distal colon and 32 with rectal tumour localization) as well as 16 controls were studied. One year after surgery, 33 patients had disease progression. Serum levels of C16:1(n-7), C18:1(n-9), C18:3(n-3), C20:5(n-3), C22:6(n- 3), C18:2(n-6), C20:2(n-6), C20:4(n-6) fatty acids of se - rum phospholipids were quantitatively measured before surgery by gas-chromatography. Results: Significantly higher mean value of C18:2, as compared to control, has been noted only for patients with proximal (p<0.05) and distal tumour (p<0.03) localization. The lower mean level of C20:5 and unsaturation index (UI) were observed in colorectal cancer patients regardless the tumour localization, but the statistical difference was noted only for patients with proximal tumours (p<0.05, p<0.03). In patients with proximal tumours, significantly lower mean level of C20:4 and UI were noted in patients with disease progression, as compared to patients with proximal tumours without disease progression (p<0.05). Conclusion: The evaluation of PUFAs as a risk/prognostic factor in colorectal cancer patients should take into account tumour localization as a dependent variable.

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