Advancements in Early Cancer Diagnosis Using Blood-Based Biomarkers and a Machine Learning Approach - Review Article

Aug 5, 2026

Cancer arises from mutations that drive abnormal cell growth, and more than a hundred cancer types have been identified, with lung, colon, pancreatic, breast, kidney, and prostate among the most common. Survival improves substantially with early identification, yet many conventional detection methods are invasive and can be painful, causing delayed presentation. This review highlights blood-test based detection strategies, including biomarker components such as ctDNA, and machine learning methods for outcome prediction.

LanguageEnglish

CategoryResearch & Report

FormatPDF

Pages7

Reading Time18 min

AccessFree to download

Abstract

Introduction

Cancer background and detection challenges

Early detection impact

Circulating tumor DNA (ctDNA) as a biomarker

Blood-test technologies for ctDNA analysis

Machine learning for cancer detection and prediction

Review Article DOI: [https://dx.doi.org/10.18203/2320-6012.ijrms20240244](https://dx.doi.org/10.18203/2320-6012.ijrms20240244) Advancements in early cancer diagnosis using blood-based biomarkers and a machine learning approach Megha Manoj, Tharunya Kalva Banuprakash, Namasivaya Naveen Shanmuga Sundaram*, Rajive Gandhi Chandrabose, Dharshini Sankareshwaran, Rakshaana Behum Kadar Mohideen Faculty of Engineering and Technology, Sri Ramachandra Institute of Higher Education and Research, Porur, Chennai, Tamil Nadu, India Received: 04 December 2023 Revised: 04 January 2024 Accepted: 15 January 2024 *Correspondence: Namasivaya Naveen Shanmuga Sundaram, [E-mail: namasivayanaveen@gmail.com](E-mail: namasivayanaveen@gmail.com) Copyright: © the author(s), publisher and licensee Medip Academy. This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial ABSTRACT Mutations that promote aberrant cell growth are the root of the condition known as cancer. There are over a hundred distinct forms of cancer that have been identified, with lung, colon, pancreatic, breast, kidney, and prostate cancer being the most prevalent. The likelihood that a patient will survive cancer is significantly improved by early identification. Most techniques used to detect cancer are invasive, which may be painful and uncomfortable for patients and prevent them from seeking treatment. As a result, cancer is frequently discovered only after substantial symptoms have developed and it may then be too late for treatment. In this review, we will discuss several methods for detecting cancer through blood tests, different elements that serve as biomarkers, and machine learning algorithms for predicting outcomes. Keywords: Early cancer detection, Blood, ctDNA, Machine learning INTRODUCTION Cancer is a term used to denote a collection of diseases caused due to mutation, leading to the abnormal proliferation of cells.1 There are greater than hundred unique types of documented cancer among them the most common cancers include lung, colorectal, breast, kidney, prostate, and bladder cancer. 1,2 The causative agent of cancer is known as a carcinogen and it includes oncogenic viruses, radiation, and chemicals.3 Appropriate detection methods are necessary for effective cancer detection and treatment. Imaging tests produce detailed images of regions inside the body and the different energy forms such as radio waves, x-rays, radioactive substances, and ultrasound are commonly used in imaging tests. They are mainly used in the detection and treatment of diseases, and to monitor the treatment progress. Biopsy is the process in which a part of a tissue or cells or liquid is extracted from the body and is examined for the presence of a tumor. Biopsy is the most common and predominantly used method to detect the type of cancer. The endoscopy procedure uses a thin, flexible tube containing a camera called an endoscope which is inserted into the body to detect abnormal areas. If any abnormality is found, biopsy is done and the presence of the tumor is detected. One of the leading causes of death is cancer which accounts for 10 million deaths worldwide. We can overcome this situation if the cancer is detected at an early stage. Early detection has a great impact on increasing the patient’s survival rate. The morbidity rate can be minimized when the cancer is detected early. Cancer treatment has a high success rate when detected early which greatly increases the survival rate.4 In many cases, cancer is detected only after significant symptoms have developed when it may be too late for treatment and most of the methods available for detection of cancer are invasive which may be uncomfortable and painful and can discourage patients. The DNA released by tumor cells into the blood is known as circulating tumor DNA or ctDNA the old cells are replaced by new

FAQs

Why is early cancer diagnosis important?

Early identification significantly improves survival rates and reduces morbidity. Many cancers are missed until major symptoms appear, so earlier detection can improve treatment success.

What role does ctDNA play in blood-based cancer detection?

Tumor cells release DNA into the bloodstream as circulating tumor DNA (ctDNA). After isolation, ctDNA serves as a biomarker and can be used to detect tumors and infer tumor stage based on the amount and type of ctDNA.

Which blood-based methods and biomarkers are discussed for ctDNA detection?

The review discusses techniques such as ddPCR, BEAMing, TAm-Seq, CAPP-Seq, WGS, WES, and WGBS-Seq. These methods target different aspects of ctDNA detection, including rare mutations, quantification, and methylation patterns.

Aug 5, 2026

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