LIVIVO - Search results -

Search results

Result 1 - 10 of total 22

Search options

Article ; Online: Targeted next generation sequencing provides insight for the genetic alterations in liquid biopsy of Egyptian brain tumor patients

Neemat M. Kassem / Hebatallah A. Kassem / Hanan Selim / Mohamed Hafez

Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-

2022 Volume 8

Abstract: Abstract Background Glioblastoma (GBM) is the commonest primary malignant cerebral tumor in adults. Detection of genetic mutations in liquid biopsy is endorsed rapidly throughout several solid neoplasms but still limited in GBM. Our study provides ... ...

Abstract	Abstract Background Glioblastoma (GBM) is the commonest primary malignant cerebral tumor in adults. Detection of genetic mutations in liquid biopsy is endorsed rapidly throughout several solid neoplasms but still limited in GBM. Our study provides insight for the genetic alterations in liquid biopsy of the newly diagnosed GBM patients using next generation sequencing technology together with identification of the microsatellite instability (MSI) status in those patients. Results Eighteen variants detected in 15 genes which were (4, 12 and 2) missense, coding silent and intronic mutations, respectively. The 4 substitution–missense mutations were as follows: Drug responsive TP53 (p.Pro72Arg) variant was detected in 6 patients (85.7%). KDR (p.Gln472His) variant was noted in 4 patients (57.1%) as a result of substitution at c.1416A > T. Two patients revealed KIT (p.Met541Leu) variant which result from substitution at c.1621A > C. Only one patient showed mutation in JAK3 gene which was (p.Val718Leu) variant resulting from c.2152G > C substitution. Regarding MSI status, four cases (57.1%) were MSI-Low and three cases (42.9%) were MSI-High. Conclusions This study identifies the molecular landscape and microsatellite instability alternations in Egyptian brain tumor patients, which may have an important role in improving the outcome, survival and may help in evolving a characteristic individual therapy.
Keywords	Glioblastoma multiforme ; Next generation sequencing ; Activating mutations ; Medicine (General) ; R5-920 ; Genetics ; QH426-470
Subject code	616 ; 610
Language	English
Publishing date	2022-02-01T00:00:00Z
Publisher	SpringerOpen
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Nutrigenomics and microbiome shaping the future of personalized medicine: a review article.

Kassem, Neemat M / Abdelmegid, Yassmin A / El-Sayed, Mahmoud K / Sayed, Rana S / Abdel-Aalla, Mahmoud H / Kassem, Hebatallah A

Journal, genetic engineering & biotechnology

2023 Volume 21, Issue 1, Page(s) 134

Abstract: The relationship between nutrition and genes has long been hinted at and sometimes plainly associated with certain diseases. Now, after many years of research and coincidental findings, it is believed that this relationship, termed "Nutrigenomics," is ... ...

Abstract	The relationship between nutrition and genes has long been hinted at and sometimes plainly associated with certain diseases. Now, after many years of research and coincidental findings, it is believed that this relationship, termed "Nutrigenomics," is certainly a factor of major importance in various conditions. In this review article, we discuss nutrigenomics, starting with basics definitions and enzymatic functions and ending with its palpable association with cancer. Now, diet is basically what we eat on a daily basis. Everything that enters through our alimentary tract ends up broken down to minute molecules and amino acids. These molecules interact with our microbiome and genome in discreet ways. For instance, we demonstrate how proper intake of probiotics enhances beneficial bacteria and may alleviate IBS and prevent colorectal cancer on the long term. We also show how a diet rich in folic acid is essential for methylenetetrahydrofolate reductase (MTHFR) function, which lowers risk of colorectal cancer. Also, we discuss how certain diets were associated with development of certain cancers. For example, red and processed meat are highly associated with colorectal and prostate cancer, salty diets with stomach cancer, and obesity with breast cancer. The modification of these diets significantly lowered the risk and improved prognosis of these cancers among many others. We also examined how micronutrients had a role in cancer prevention, as vitamin A and C exert anti-carcinogenic effects through their function as antioxidants. In addition, we show how folic acid prevent DNA mutations by enhancing protein methylation processes. Finally, after a systematic review of myriad articles on the etiology and prevention of cancer, we think that diet should be a crucial feature in cancer prevention and treatment programs. In the future, healthy diets and micronutrients may even be able to successively alter the liability to genetic mutations that result in cancer. It also will play a role in boosting treatment and improving prognosis of diagnosed cancers.
Language	English
Publishing date	2023-11-22
Publishing country	Netherlands
Document type	Journal Article ; Review
ZDB-ID	2637420-1
ISSN	2090-5920 ; 1687-157X ; 2090-5920
ISSN (online)	2090-5920
ISSN	1687-157X ; 2090-5920
DOI	10.1186/s43141-023-00599-2
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Article ; Online: The Clinicopathological Impact of Granulocyte-Macrophage Colony-Stimulating Factor Gene Expression and Different Molecular Prognostic Biomarkers in Egyptian Acute Myeloid Leukemia Patients.

Nagdy, Bassant / Kassem, Hebatallah A / Abdel-Ghaffar, Abdel-Rahman B / Seoudi, Dina M / Kassem, Neemat M

Asian Pacific journal of cancer prevention : APJCP

2020 Volume 21, Issue 7, Page(s) 1993–2001

Abstract: Background: Acute myeloid leukemia (AML) is characterized by clonal expansion of myeloid precursors with diminished capacity for differentiation. It develops as the consequence of a series of genetic changes in a hematopoietic precursor cell. Purpose ... ...

Abstract	Background: Acute myeloid leukemia (AML) is characterized by clonal expansion of myeloid precursors with diminished capacity for differentiation. It develops as the consequence of a series of genetic changes in a hematopoietic precursor cell. Purpose This study aimed to investigate the correlation between GM-CSF gene expression and different molecular prognostic markers such as FLT3-ITD, NPM1 mutation A and CEBPA gene expression in 100 Egyptian AML patients. As well as, correlation with the response to induction therapy, DFS andOS in these patients. Methodology: Quantitative assessment of GM-CSF gene expression was performed by qRT-PCR. Additional prognostic molecular markers were determined as FLT3-ITD and NPM1 mutation A together with quantitative assessment of CEBPA gene expression by qRT-PCR. Results: Patients with high GM-CSF expression levels had better OS and DFS with p value 0.004 and 0.02, respectively. However, no statistically significant difference between low andhigh GM-CSF gene expression was found regarding the response to therapy (p value= 0.08). Most patients with low CEBPA expression had resistant disease together with poor OS and DFS (P value =.
MeSH term(s)	Adolescent ; Adult ; Aged ; Biomarkers, Tumor/genetics ; Biomarkers, Tumor/metabolism ; CCAAT-Enhancer-Binding Proteins/genetics ; CCAAT-Enhancer-Binding Proteins/metabolism ; Child ; Female ; Follow-Up Studies ; Granulocyte-Macrophage Colony-Stimulating Factor/genetics ; Granulocyte-Macrophage Colony-Stimulating Factor/metabolism ; Humans ; Leukemia, Myeloid, Acute/genetics ; Leukemia, Myeloid, Acute/metabolism ; Leukemia, Myeloid, Acute/pathology ; Male ; Middle Aged ; Mutation ; Nuclear Proteins/genetics ; Nuclear Proteins/metabolism ; Prognosis ; Survival Rate ; Young Adult ; fms-Like Tyrosine Kinase 3/genetics ; fms-Like Tyrosine Kinase 3/metabolism
Chemical Substances	Biomarkers, Tumor ; CCAAT-Enhancer-Binding Proteins ; CEBPA protein, human ; Nuclear Proteins ; nucleophosmin (117896-08-9) ; Granulocyte-Macrophage Colony-Stimulating Factor (83869-56-1) ; FLT3 protein, human (EC 2.7.10.1) ; fms-Like Tyrosine Kinase 3 (EC 2.7.10.1)
Language	English
Publishing date	2020-07-01
Publishing country	Thailand
Document type	Journal Article
ZDB-ID	2218955-5
ISSN	2476-762X ; 1513-7368
ISSN (online)	2476-762X
ISSN	1513-7368
DOI	10.31557/APJCP.2020.21.7.1993
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: The clinical impact of hepatitis C virus infection in Egyptian multiple myeloma patients.

Kassem, Neemat M / Kassem, Hebatallah A / Ibrahim, Magdy / Zawam, Hussam / Hamada, Emad

Journal of the Egyptian National Cancer Institute

2020 Volume 32, Issue 1, Page(s) 43

Abstract: Background: Multiple myeloma (MM) is a human B cell neoplasia characterized by the clonal proliferation of malignant plasma cells in the bone marrow. Worldwide, hepatitis C virus (HCV) infection is a public health problem. For MM patients, the clinical ... ...

Abstract	Background: Multiple myeloma (MM) is a human B cell neoplasia characterized by the clonal proliferation of malignant plasma cells in the bone marrow. Worldwide, hepatitis C virus (HCV) infection is a public health problem. For MM patients, the clinical impact of preexisting HCV infection is still unclear. We aim to assess the clinical characteristics and the prevalence of the HCV infection in Egyptian MM patients. This observational study included 81 MM patients. HCV antibody assay was performed, and positive cases were confirmed using a reverse transcription-quantitative PCR (RT-PCR) method. Results: Fifteen (18.5%) patients were anti-HCV antibody positive. Only 6/15 (7.4%) patients were HCV RNA positive by RT-PCR. Liver affection in the form of hyperbilirubinemia with grade 4 adverse events was significantly higher in the anti-HCV positive/HCV RNA positive group versus anti HCV negative group (16.7% vs. 1.5%, p value = 0.005). The median HCV-RNA before the initiation of chemotherapy was 2.5 log IU/ml with mean ± SD = 4.25 ± 1.6 with no HCV reactivation. In the univariate and multivariate analysis, HCV infection was not an independent factor related to DFS. Low hemoglobin level < 10 g/dL (HR 0.59, 95% CI, 0.36-0.97, p value = 0.037) and abnormal serum total bilirubin level (HR 1.9, 95% CI 1.03-3.5, p value = 0.039) influenced DFS in the univariate analysis. However, in the multivariate analysis, serum calcium level greater than 12 mg/dL (HR 7.04, 95% CI 1.12-44.45, p value = 0.038) and abnormal serum total bilirubin level (HR 10.9, 95% CI 2.92-41.02, p value = < 0.001) remained statistically significant worse prognostic factors. Conclusion: In conclusion, our study revealed the prevalence of HCV infection in Egyptian MM patients. Serologic tests at diagnosis are necessary to identify these patients, and confirmation of positive cases by molecular techniques should be mandatory, with regular follow-up for liver dysfunction. Finally, further larger studies explaining the molecular mechanisms linking HCV and the MM pathogenesis are warranted.
MeSH term(s)	Egypt/epidemiology ; Hepacivirus/genetics ; Hepatitis C/complications ; Hepatitis C/diagnosis ; Hepatitis C/epidemiology ; Humans ; Liver Function Tests ; Multiple Myeloma/complications ; Multiple Myeloma/diagnosis ; Multiple Myeloma/epidemiology
Language	English
Publishing date	2020-11-27
Publishing country	England
Document type	Journal Article ; Observational Study
ZDB-ID	1176790-x
ISSN	2589-0409 ; 1110-0362
ISSN (online)	2589-0409
ISSN	1110-0362
DOI	10.1186/s43046-020-00054-0
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3918: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Detection of activating mutations in liquid biopsy of Egyptian breast cancer patients using targeted next-generation sequencing: a pilot study.

Kassem, Neemat / Kassem, Hebatallah / Kassem, Loay / Hassan, Mohamed

Journal of the Egyptian National Cancer Institute

2021 Volume 33, Issue 1, Page(s) 10

Abstract: Background: Breast cancer (BC) is the 2: Results: Twenty-one variants were detected in 15 genes: 7 Substitution-Missense, 12 Substitution-coding silent, and 2 Substitution-intronic. Regarding ClinVar database, out of 21 variants there were 14 benign ... ...

Abstract	Background: Breast cancer (BC) is the 2 Results: Twenty-one variants were detected in 15 genes: 7 Substitution-Missense, 12 Substitution-coding silent, and 2 Substitution-intronic. Regarding ClinVar database, out of 21 variants there were 14 benign variants, 3 variants with conflicting interpretations of pathogenicity, 3 variants not reported, and 1 drug response variant. TP53 p.(Pro72Arg) missense mutations were found in 75% of patients. PIK3CA p.(Ile391Met), KDR p.(Gln472His) missense mutations were detected in 25% of patients each. Two patients revealed APC gene missense mutation with p.(Ile1307Lys) and p.(Glu1317Gln) variants. Only one patient showed ATM p.(Phe858Leu) gene mutation and one showed FGFR3 p.(Ala719Thr) variant. Regarding microsatellite instability (MSI) status, 2/8 (25%) patients were MSS, 3/8 (37.5%) patients were MSI-L, and 3/8 (37.5%) patients were MSI-HI. Conclusion: It is essential to use and validate minimally invasive liquid biopsy for activating mutations detection by next-generation sequencing especially in patients with inoperable disease or bone metastasis. This work should be extended with larger patient series with comparison of genetic mutations in liquid-based versus tissue-based biopsy and longer follow up period.
MeSH term(s)	Breast Neoplasms/genetics ; Egypt/epidemiology ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Liquid Biopsy ; Mutation ; Pilot Projects
Language	English
Publishing date	2021-04-17
Publishing country	England
Document type	Journal Article
ZDB-ID	1176790-x
ISSN	2589-0409 ; 1110-0362
ISSN (online)	2589-0409
ISSN	1110-0362
DOI	10.1186/s43046-021-00067-3
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3918: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Chemotherapeutic Resistance in Egyptian Acute Myeloid Leukemia Patients.

Kassem, Neemat M / Medhat, Nashwa / Kassem, Hebatallah A / El-Desouky, Mohamed A

Asian Pacific journal of cancer prevention : APJCP

2019 Volume 20, Issue 8, Page(s) 2421–2427

MeSH term(s)	Adolescent ; Adult ; Aged ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Biomarkers, Tumor ; Case-Control Studies ; Child ; Child, Preschool ; Drug Resistance, Neoplasm/genetics ; Egypt ; Female ; Follow-Up Studies ; Humans ; Leukemia, Myeloid, Acute/drug therapy ; Leukemia, Myeloid, Acute/genetics ; Leukemia, Myeloid, Acute/pathology ; Male ; Middle Aged ; Mutation ; Nuclear Proteins/genetics ; Prognosis ; Survival Rate ; Young Adult ; fms-Like Tyrosine Kinase 3/genetics
Chemical Substances	Biomarkers, Tumor ; Nuclear Proteins ; nucleophosmin (117896-08-9) ; FLT3 protein, human (EC 2.7.10.1) ; fms-Like Tyrosine Kinase 3 (EC 2.7.10.1)
Language	English
Publishing date	2019-08-01
Publishing country	Thailand
Document type	Journal Article
ZDB-ID	2218955-5
ISSN	2476-762X ; 1513-7368
ISSN (online)	2476-762X
ISSN	1513-7368
DOI	10.31557/APJCP.2019.20.8.2421
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: Review article: cancer stem cells: from identification to eradication.

Kassem, Neemat M

Journal of the Egyptian National Cancer Institute

2010 Volume 20, Issue 3, Page(s) 209–215

Abstract: Rationale: A fundamental problem in cancer research is identification of the cells within a tumor that sustain the growth of the neoplastic clone. The concept that only a subpopulation of rare cancer stem cells (CSCs) is responsible for maintenance of ... ...

Abstract	Rationale: A fundamental problem in cancer research is identification of the cells within a tumor that sustain the growth of the neoplastic clone. The concept that only a subpopulation of rare cancer stem cells (CSCs) is responsible for maintenance of the neoplasm emerged nearly 50 years ago: however, conclusive proof for the existence of a CSC was obtained only relatively recently. As definition, cancer stem cells (CSCs) are a sub-population of cancer cells (found within solid tumors or hematological malignancies) that possess characteristics normally associated with stem cells as high self-renewal potential. These cells are believed to be tumorigenic (tumor- forming) in contrast to the bulk of cancer cells, which are thought to be non-tumorigenic. The first conclusive evidence for CSCs was published in 1997 in Nature Medicine by Bonnet & Dick who isolated a subpopulation of leukemic cells in AML that express a specific surface marker CD34 but lacks the CD38 marker. The authors established that the CD34+/CD38- subpopulation is capable of initiating leukemia in NOD/SCID mice that is histologically similar to the donor [1]. This subpopulation of cells is termed SCID Leukemia-initiating cells (SLIC). A theory suggests that such cells act as a reservoir for disease recurrence, are the origin of metastasis and exert resistance towards classical antitumor regimens. This resistance was attributed to a combination of several factors [2], suggesting that conventional antitumor regimens are targeting the bulk of the tumor not the dormant stubborn CSCs. Purpose: Better understanding of the leukemogenic process and the biology of CSCS to define the most applicable procedures for their identification and isolation in order to design specific targeted therapies aiming at reducing disease burden to very low levels .. up to eradication of the tumor.
Language	English
Publishing date	2010-04-23
Publishing country	England
Document type	Journal Article
ZDB-ID	1176790-x
ISSN	1110-0362
ISSN	1110-0362
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3918: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Circulating miR-34a and miR-125b as Promising non Invasive Biomarkers in Egyptian Locally Advanced Breast Cancer Patients.

Kassem, Neemat M / Makar, Wael S / Kassem, Hebatallah A / Talima, Soha / Tarek, Mustafa / Hesham, Hadeer / El-Desouky, Mohamed A

Asian Pacific journal of cancer prevention : APJCP

2019 Volume 20, Issue 9, Page(s) 2749–2755

MeSH term(s)	Adult ; Aged ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Biomarkers, Tumor ; Breast Neoplasms/blood ; Breast Neoplasms/drug therapy ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Carcinoma, Ductal, Breast/blood ; Carcinoma, Ductal, Breast/drug therapy ; Carcinoma, Ductal, Breast/genetics ; Carcinoma, Ductal, Breast/pathology ; Carcinoma, Lobular/blood ; Carcinoma, Lobular/drug therapy ; Carcinoma, Lobular/genetics ; Carcinoma, Lobular/pathology ; Circulating MicroRNA/blood ; Circulating MicroRNA/genetics ; Egypt ; Female ; Follow-Up Studies ; Gene Expression Regulation, Neoplastic ; Humans ; MicroRNAs/blood ; MicroRNAs/genetics ; Middle Aged ; Neoadjuvant Therapy ; Prognosis
Chemical Substances	Biomarkers, Tumor ; Circulating MicroRNA ; MIRN125 microRNA, human ; MIRN34 microRNA, human ; MicroRNAs
Language	English
Publishing date	2019-09-01
Publishing country	Thailand
Document type	Journal Article
ZDB-ID	2218955-5
ISSN	2476-762X ; 1513-7368
ISSN (online)	2476-762X
ISSN	1513-7368
DOI	10.31557/APJCP.2019.20.9.2749
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Role of Granulocyte-Macrophage Colony-Stimulating Factor in Acute Myeloid Leukemia/Myelodysplastic Syndromes.

Kassem, Neemat M / Ayad, Alya M / El Husseiny, Noha M / El-Demerdash, Doaa M / Kassem, Hebatallah A / Mattar, Mervat M

Journal of global oncology

2017 Volume 4, Page(s) 1–6

Abstract: Purpose: Granulocyte-macrophage colony-stimulating factor (GM-CSF) cytokine stimulates growth, differentiation, and function of myeloid progenitors. We aimed to study the role of GM-CSF gene expression, its protein, and antibodies in patients with acute ...

Abstract	Purpose: Granulocyte-macrophage colony-stimulating factor (GM-CSF) cytokine stimulates growth, differentiation, and function of myeloid progenitors. We aimed to study the role of GM-CSF gene expression, its protein, and antibodies in patients with acute myeloid leukemia/myelodysplastic syndromes (AML/MDS) and their correlation to disease behavior and treatment outcome. The study included 50 Egyptian patients with AML/MDS in addition to 20 healthy volunteers as control subjects. Patients and methods: Assessment of GM-CSF gene expression was performed by quantitative real-time polymerase chain reaction. GM-CSF proteins and antibodies were assessed by enzyme-linked immunosorbent assay. Results: There was significant decrease in GM-CSF gene expression ( P = .008), increase in serum level of GM-CSF protein ( P = .0001), and increase in anti-GM-CSF antibodies ( P = .001) in patients with AML/MDS compared with healthy control subjects. In addition, there was a significant negative correlation between serum levels of GM-CSF protein and initial peripheral blood blasts, percentage as well as response to therapy. Conclusion: Any alteration in GM-CSF gene expression could have implications in leukemogenesis. In addition, GM-CSF protein serum levels could be used to predict outcome of therapy. GM-CSF antibodies may also play a role in the pathogenesis of AML/MDS. The use of these GM-CSF parameters for disease monitoring and as markers of disease activity needs further research.
MeSH term(s)	Adult ; Aged ; Aged, 80 and over ; Antibodies/blood ; Cell Differentiation ; Female ; Gene Expression ; Granulocyte-Macrophage Colony-Stimulating Factor/blood ; Granulocyte-Macrophage Colony-Stimulating Factor/genetics ; Granulocyte-Macrophage Colony-Stimulating Factor/immunology ; Humans ; Leukemia, Myeloid, Acute/blood ; Leukemia, Myeloid, Acute/drug therapy ; Leukemia, Myeloid, Acute/genetics ; Male ; Middle Aged ; Myelodysplastic Syndromes/blood ; Myelodysplastic Syndromes/drug therapy ; Myelodysplastic Syndromes/genetics ; Young Adult
Chemical Substances	Antibodies ; Granulocyte-Macrophage Colony-Stimulating Factor (83869-56-1)
Language	English
Publishing date	2017-09-29
Publishing country	United States
Document type	Journal Article
ISSN	2378-9506
ISSN (online)	2378-9506
DOI	10.1200/JGO.2017.009332
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Clinicopathological features of Egyptian colorectal cancer patients regarding somatic genetic mutations especially in KRAS gene and microsatellite instability status

Neemat M. Kassem / Gamal Emera / Hebatallah A. Kassem / Nashwa Medhat / Basant Nagdy / Mustafa Tareq / Rabab Abdel Moneim / Mohammed Abdulla / Wafaa H. El Metenawy

Egyptian Journal of Medical Human Genetics, Vol 20, Iss 1, Pp 1-

a pilot study

2019 Volume 9

Abstract: Abstract Background Colorectal cancer (CRC) is the third most common cause of cancer-related deaths which contributes to a significant public health problem worldwide with 1.8 million new cases and almost 861,000 deaths in 2018 according to the World ... ...

Abstract	Abstract Background Colorectal cancer (CRC) is the third most common cause of cancer-related deaths which contributes to a significant public health problem worldwide with 1.8 million new cases and almost 861,000 deaths in 2018 according to the World Health Organization. It exhibits 7.4% of all diagnosed cancer cases in the region of the Middle East and North Africa. Molecular changes that happen in CRCs are chromosomal instability, microsatellite instability (MSI), and CpG island methylator phenotype. The human RAS family (KRAS, NRAS, and HRAS) is the most frequently mutated oncogenes in human cancer appearing in 45% of colon cancers. Determining MSI status across CRCs offers the opportunity to identify patients who are likely to respond to targeted therapies such as anti-PD-1. Therefore, a method to efficiently determine MSI status for every cancer patient is needed. Results KRAS mutations were detected in 31.6% of CRC patients, namely in older patients (p = 0.003). Codons 12 and 13 constituted 5/6 (83.3%) and 1/6 (16.7%) of all KRAS mutations, respectively. We found three mutations G12D, G12C, and G13D which occur as a result of substitution at c.35G>A, c.34G>T, and c.38G>A and have been detected in 4/6 (66.6%), 1/6 (16.7%), and 1/6 (16.7%) patients, respectively. Eleven (57.9%) patients had microsatellite instability-high (MSI-H) CRC. A higher percentage of MSI-H CRC was detected in female patients (p = 0.048). Eight patients had both MSI-H CRC and wild KRAS mutation with no statistical significance was found between MSI status and KRAS mutation in these studied patients. Conclusion In conclusion, considering that KRAS mutations confer resistance to EGFR inhibitors, patients who have CRC with KRAS mutation could receive more tailored management by defining MSI status. MSI-high patients have enhanced responsiveness to anti-PD-1 therapies. Thus, the question arises as to whether it is worth investigating this association in the routine clinical setting or not. Further studies with a larger number of ...
Keywords	Colorectal cancer ; Targeted NGS ; KRAS mutation ; MSI ; Medicine (General) ; R5-920 ; Genetics ; QH426-470
Subject code	616 ; 610
Language	English
Publishing date	2019-11-01T00:00:00Z
Publisher	SpringerOpen
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

To top

Full text online

More links

Kategorien

Inter-library loan at ZB MED

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

Full text online

More links

Kategorien

Inter-library loan at ZB MED