The Validation of Aberrant TM6SF1 Gene Methylation in the Diagnosis of Breast Cancer Patients

El-Far, Mohamed; Foda, Basma M.; Swellam, Menha; Abouzid, Amr; Abdelrazek, Mohamed A.

doi:10.30476/mejc.2025.104201.2169

The Validation of Aberrant TM6SF1 Gene Methylation in the Diagnosis of Breast Cancer Patients

Document Type : Original Article(s)

Authors

Mohamed El-Far ¹

Basma M. Foda ¹

Menha Swellam ²

Amr Abouzid ³

Mohamed A. Abdelrazek ⁴

¹ Chemistry Department, Biochemistry Division, Faculty of Science, Mansoura University, Mansoura, Egypt

² Biochemistry Department, Biotechnology Research Institute, High Throughput Molecular and Genetic Laboratory, Central Laboratories Network and the Centers of Excellence, National Research Centre, Dokki, Giza, Egypt

³ Department of Surgical Oncology, Mansoura Oncology Centre, Faculty of Medicine, Mansoura University, Mansoura, Egypt

⁴ Research and Development Department, Biotechnology Research Center, New Damietta, Egypt

https://doi.org/10.30476/mejc.2025.104201.2169

Abstract

Background: The limitations of breast cancer (BC) diagnosis and prognosis strategies are well-established. The present study aimed to evaluate transmembrane 6 superfamily member 1 (TM6SF1) DNA methylation as non-invasive biomarker for differentiating BC from non-cancer individuals (with benign breast diseases and healthy controls). Also, this study aimed to evaluate the association between TM6SF1 methylation and clinicopathological BC features.
Method: A total of 200 women were enrolled in this retrospective study. The study participants were divided into three groups of 120 women with primary BC, 40 women with benign breast diseases, and 40 normal healthy controls. Blood sample were withdrawn and DNA was extracted. Then, TM6SF1 DNA methylation level was detected using a quantitative polymerase chain reaction assay. Data were analyzed using GraphPad prism (version 6) and SPSS (version 20) programs. The statistical differences between the three groups were determined using ANOVA and Kruskal-Wallis tests. A P value < 0.05 was considered to be statistically significant.
Results: The study findings revealed that hyper methylation of TM6SF1 level was reported higher in BC patients [82.2 (56.8-87.7)] as compared with benign [28.9 (27.9-64.8)] or healthy [27.8 (13-28.8)] controls at P = 0.0001. TM6SF1 methylation had superior diagnostic efficacy as compared with established BC markers [carcinoembryonic antigen and cancer antigen (CA15.3)]. Also, methylation level showed significant difference among clinical stages, histological grading and lymph-node invasion.
Conclusion: The present study reveals that aberrant TM6SF1 methylation is associated with BC tumorgenesity. It could facilitate early BC detection from benign breast diseases. Hypermethylated TM6SF1 is associated with disease progression suggesting its potential role as diagnostic and prognostic biomarker for BC.

Highlights

Mohamed A. Abdelrazek (googl escholar)

Keywords

Breast cancer

Early diagnosis

TM6SF1

DNA methylation

Circulating molecular markers

Subjects

Cancer Diagnosis

How to cite this article:

El-Far M, Foda BM, Swellam M, Abouzid A, Abdelrazek MA. The validation of aberrant TM6SF1 gene methylation in the diagnosis of breast cancer patients. Middle East J Cancer. 2026; 17(2): 106-15. doi: 10.30476/mejc.2025.104201.2169.

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