An Overview - Genetic Tumor Markers for Early Detection and Current Gene Therapy Strategies

Sep 24, 2026

Genomic instability is a core driver of neoplastic disease, creating intratumoral genetic heterogeneity and cancer phenotypic diversity. Genetic alterations can be identified using molecular diagnostic techniques, and genomic-integrity changes may function as reliable molecular markers for early cancer detection and abnormal body-cell changes. Compared with conventional diagnosis, these markers can enable earlier identification, support targeted therapeutic manipulation after tumor diagnosis, and help enable more personalized treatment with fewer adverse effects from chemotherapy and radiotherapy. The review describes detection approaches and applications in gene therapy to improve cancer care and patient quality of life.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages13

Reading Time33 min

AccessFree to download

ABSTRACT

Introduction

Liquid biopsy and early detection

Genetic instability, biomarkers, and prognosis

Gene Test for the Early Detection of Cancer

Genetic and epigenetic events in cancer

Driver genes, oncogenes, and tumor suppressor genes

An Overview: Genetic Tumor Markers for Early Detection and Current Gene Therapy Strategies Reeshan ul Quraish, Tetsuyuki Hirahata, Afraz ul Quraish and Shahan ul Quraish Hirahata Gene Therapy Laboratory, HIC Clinic, Tokyo, Japan. Cancer Informatics Volume 22: 1–13 © The Author(s) 2023 Article reuse guidelines: [sagepub.com/journals-permissions](sagepub.com/journals-permissions)[ ](sagepub.com/journals-permissions)[DOI: 10.1177/11769351221150772](DOI: 10.1177/11769351221150772) | | | | --- | --- | | ABSTRACT: Genomic instability is considered a fundamental factor involved in any neoplastic disease. Consequently, the genetically unstable cells contribute to intratumoral genetic heterogeneity and phenotypic diversity of cancer. These genetic alterations can be detected by several diagnostic techniques of molecular biology and the detection of alteration in genomic integrity may serve as reliable genetic molecular markers for the early detection of cancer or cancer-related abnormal changes in the body cells. These genetic molecular markers can detect cancer earlier than any other method of cancer diagnosis, once a tumor is diagnosed, then replacement or therapeutic manipulation of these cancerrelated abnormal genetic changes can be possible, which leads toward effective and target-specific cancer treatment and in many cases, personalized treatment of cancer could be performed without the adverse effects of chemotherapy and radiotherapy. In this review, we describe how these genetic molecular markers can be detected and the possible ways for the application of this gene diagnosis for gene therapy that can attack cancerous cells, directly or indirectly, which lead to overall improved management and quality of life for a cancer patient.
KEywORDS: Gene therapy, immune cell therapy, DNA vaccine therapy, cytokine therapy, tumor suppressor gene therapy | | | RECEIVED: July 5, 2022. ACCEPTED: December 24, 2022.
TyPE: Review | DEClARATIOn OF COnFlICTInG InTERESTS: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. | | FunDInG: The author(s) received no financial support for the research, authorship, and/or publication of this article. | CORRESPOnDInG AuTHOR: Tetsuyuki Hirahata, Hirahata Gene Therapy Laboratory, HIC Clinic \#1105, Itocia Office Tower 11F, 2-7-1, Yurakucho, Chiyoda-ku, Tokyo 100-0006,
Japan. Email: [hirahata@hicc.jp](hirahata@hicc.jp) | | Introduction | into the body of a patient to attack and kill the cancer cells.7-9 | | In our previous article, we described how liquid biopsy can be | In this review, we explain briefly about gene tests such as con- | | used for the detection of genetic tumor markers for the early | centration and fragment length of free DNA, DNA mutation | | diagnosis and prognosis of cancer.1 In this current article, we | detection test, DNA methylation test, and Gene expression | | will review various nucleic acid based biomarkers for gene | test for early detection, diagnosis, and prognosis of cancer, we | | diagnosis and clinical methods for gene therapy to cure cancer | also describe different types of gene therapies performed to | | disease. Cancer is a multi-factorial genetic disorder and a com- | either directly attack cancer cells or to induce the immune sys- | | plex group of diseases in which cells grow out of control and do | tem ofa cancer patient to fight cancer. In the field of oncology, | | not die after being damaged or useless, and show immortality.2 | molecular genetics of cancer is becoming an important tool for | | There are many factors involved in the process of cancer gen- | screening, surveillance, treatment, and management. | | eration such as; environmental factors, lifestyles, and infections, | Future research and improvements in cancer genetics will | | which can then lead to abnormalities in cancer-related genes at | increase the ability to precisely and cost-effectivel

FAQs

Why are genetic tumor markers important for early cancer detection?

Genomic instability drives intratumoral heterogeneity, and genetic alterations can be detected with molecular diagnostic techniques. These molecular markers may allow earlier identification of cancer or cancer-related abnormal cellular changes.

How do gene therapy strategies use these genetic markers?

The review discusses applying gene diagnosis for gene therapy approaches that can attack cancerous cells directly or indirectly. Using marker-guided targeting can support more effective, potentially personalized treatment.

What roles do cancer driver genes play in the proposed approach?

Cancer driver genes influence cancer progression and can be classified as tumor suppressor genes and oncogenes based on their roles. Their mutation and functional changes help disrupt the balance between cell division and apoptosis.

Sep 24, 2026

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