Circulating-tumour DNA methylation of HAND1 gene - a promising biomarker in early detection of colorectal cancer

Sep 21, 2026

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Background: Colorectal cancer (CRC) remains a major global health concern, and early detection is difficult because it is often asymptomatic at first. Liquid biopsies enable non-invasive monitoring by analyzing biomarkers in biofluids. Circulating-tumour DNA (ctDNA) carries tumor-specific genetic material, including distinct DNA methylation patterns that may help distinguish cancer from normal cells. This study evaluates HAND1 methylation in plasma ctDNA as a potential early diagnostic biomarker. AIMS and methods assess HAND1 versus SEPT9 using qMS-PCR.

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CategoryHealthcare

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Abstract

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Materials and methods

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Shavali etal. BMC Medical Genomics (2024) 17:117 BMC Medical Genomics [https://doi.org/10.1186/s12920-024-01893-9](https://doi.org/10.1186/s12920-024-01893-9) RESEARCH Open Access Circulating-tumour DNA methylation of HAND1 gene: a promising biomarker in early detection of colorectal cancer Mehrdad Shavali 1†, Arash Moradi2†, Mohammad Tahmaseb 1, Kamal Mohammadian3,4 and Shahla Mohammad Ganji2* Abstract Background Colorectal cancer (CRC) is one of the significant global health concerns with an increase in cases. Regular screening tests are crucial for early detection as it is often asymptomatic in the initial stages. Liquid biopsies, a non-invasive approach that examines biomarkers in biofluids, offer a promising future in diagnosing and screening cancer. Circulating-tumour DNA (ctDNA) is the genetic material in biofluids released into the circulatory system by cells. ctDNA is a promising marker for monitoring patients since cancer cells display distinct DNA methylation patterns compared to normal cells. The potential of our research to contribute to early detection and improved patient outcomes is significant. Aims The primary objective of this research project was to explore the HAND1 methylation levels in plasma ctDNA as a potential biomarker for diagnosing CRC and evaluate the methylation level of the well-established gene SPET9 to compare it with the methylation level of HAND1 . Materials and methods Plasma samples were collected from 30 CRC patients and 15 healthy individuals, with CRC samples obtained pre-treatment. ctDNA was extracted and treated with bisulfite for methylation status assessment. Quantitative methylation-specific PCR (qMS-PCR) was performed for HAND1 and SEPT9, using β-actin (ACTB gene) asa reference. The study aims to evaluate the potential of these genes as diagnostic biomarkers for CRC, contributing to early detection and improved patient outcomes. Results Our study yielded significant results: 90% of CRC patients (27 out of 30) had hypermethylation in the SEPT9 gene, and 83%(25 out of 30) exhibited hypermethylation in the HAND1 gene. The methylation levels of both genes were significantly higher in CRC patients than in healthy donors. These findings underscore the potential of SEPT9 and HAND1 methylation as promising biomarkers for diagnosing CRC, potentially leading to early detection and improved patient outcomes. †Mehrdad Shavali and Arash Moradi contributed equally to this work. *Correspondence: Shahla Mohammad Ganji [shahla@nigeb.ac.ir](shahla@nigeb.ac.ir) Full list of author information is available at the end of the article © The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit [http://creativecommons.org/l](http://creativecommons.org/l)icenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ([http://creativecommons.org/publicdomain/zero/1.0/](http://creativecommons.org/publicdomain/zero/1.0/)) applies to the data made available in this article, unless otherwise stated in a credit line to the data. Shavali et al. BMC Medical Genomics (2024) 17:117 Page 2 of 7 Conclusion These findings highlight the potential of SEPT9 and HAND1 methylation as promising biomarkers for diagnosing CRC. However

FAQs

What is the study testing as a biomarker for colorectal cancer?

The study explores HAND1 methylation levels in plasma circulating-tumour DNA (ctDNA) as a potential biomarker for diagnosing colorectal cancer. It also evaluates SEPT9 methylation to compare performance.

How were methylation levels measured in patients?

Plasma samples were collected from CRC patients before treatment and from healthy individuals. ctDNA was extracted, treated with bisulfite, and analyzed by quantitative methylation-specific PCR (qMS-PCR) for HAND1 and SEPT9 using β-actin (ACTB) as a reference.

What were the key findings regarding HAND1 and SEPT9 methylation?

Among CRC patients, 90% showed SEPT9 hypermethylation and 83% showed HAND1 hypermethylation. Methylation levels of both genes were significantly higher in CRC patients than in healthy donors, supporting their potential as diagnostic biomarkers.

Sep 21, 2026

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