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299278

Detection of SMARCB1 gene mutations in Egyptian hepatocellular carcinoma patients using targeted next-generation sequencing: A pilot study

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Last updated: 04 Jan 2025

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Abstract

Background and objectives: Hepatocellular carcinoma (HCC) is the second most common type of cancer and has a significant mortality rate due to late identification. Although while early-stage cancer is becoming more curable, advanced forms of the disease have a poor prognosis because to a high probability of return. Understanding HCC's pathogenic process and its related genetic alterations is now crucial for effective treatment. This study aimed to detect the SMARCB1 mutations in HCC Egyptian patients using next-generation sequencing (NGS), and their relationships with clinicopathological traits were investigated.
Methods: This cross-sectional study involved 21 HCC Egyptian participants. Using NGS panel (AmpliSeq) containing the SMARCB1 gene.
Results: Among the HCC patients, the viral infections, hypertension and family history were reported as a risk factors for HCC with a significant association. As well as the clinicopathological features (ascites, portal vein invasion, metastasis and Child PUGH class) showed a significant association with HCC. The findings showed that the SMARCB1 gene had 31 single nucleotide variations (SNV), with an incidence of 86%. The alterations were distributed out in between deleterious, undefinable importance, and tolerated deviations, with missense variations (54.9%) accounting for the majority of the modifications. The clinicopathological characteristics and the SMARCB1 gene mutations did not significantly correlate.
Conclusion: This study concluded that the identification of various genetic variations in the SMARCB1 gene can aid in diagnosing and prognosis of HCC.

DOI

10.21608/rjab.2021.299278

Keywords

Hepatocellular carcinoma (HCC), next generation sequencing (NGS), SMARCB1 gene, genetic alternations

Authors

First Name

Sara

Last Name

Marzok

MiddleName

M

Affiliation

Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City, Egypt

Email

sara_marzok@hotmail.com

City

-

Orcid

-

First Name

Manal

Last Name

Elhamshary

MiddleName

O

Affiliation

Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City, Egypt

Email

manal.elhamshary@gebri.usc.edu.eg

City

-

Orcid

-

First Name

Osama

Last Name

Shalan

MiddleName

F

Affiliation

Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City, Egypt.

Email

-

City

-

Orcid

-

First Name

Randa

Last Name

Talaat

MiddleName

M.

Affiliation

Molecular Diagnostics and Therapeutics Department, Genetic Engineering & Biotechnology Research Institute (GEBRI), University of Sadat City (USC), Elsadat city, Egypt.

Email

randa.mohamed@gebri.usc.edu.eg

City

-

Orcid

-

First Name

Mahmoud

Last Name

Nasr

MiddleName

I

Affiliation

Department of Molecular Biology, Genetic Engineering & Biotechnology Research Institute, University of Sadat City, Egypt

Email

-

City

-

Orcid

-

First Name

Moustafa

Last Name

Sakr

MiddleName

-

Affiliation

Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City, Egypt.

Email

mostafa.sakr@gebri.usc.edu.eg

City

Sadat City

Orcid

0000-0002-5873-8468

First Name

Mohamed

Last Name

Khalifa

MiddleName

K

Affiliation

Children Cancer Hospital, 57357, Egypt.

Email

-

City

-

Orcid

-

First Name

Ehab

Last Name

Ahmed

MiddleName

A

Affiliation

Chemistry department, Faculty of science, Cairo University, Egypt.

Email

-

City

-

Orcid

-

First Name

Ghada

Last Name

Nasr

MiddleName

M

Affiliation

Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City, Egypt.

Email

ghada.nasr@gebri.usc.edu.eg

City

-

Orcid

-

Volume

7

Article Issue

1

Related Issue

31936

Issue Date

2021-06-01

Receive Date

2021-04-15

Publish Date

2021-06-30

Page Start

1

Page End

14

Print ISSN

2356-9433

Online ISSN

2682-3470

Article File

RJAB_Volume 7_Issue 1_Pages 1-14.pdf

PDF . 353.3kB

Link

https://rjab.journals.ekb.eg/article_299278.html

Detail API

https://rjab.journals.ekb.eg/service?article_code=299278

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Type

Original Article

Type Code

890

Publication Type

Journal

Publication Title

Research Journal of Applied Biotechnology

Publication Link

https://rjab.journals.ekb.eg/

MainTitle

Detection of SMARCB1 gene mutations in Egyptian hepatocellular carcinoma patients using targeted next-generation sequencing: A pilot study

Details

Type

Article

Created At

24 Dec 2024