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Published on: October 31, 2016
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Monitoring breast cancer progression through circulating methylated GCM2 and TMEM240 detection.
Chin-Sheng Hung1,2,3, Hsieh-Tsung Shen4,5,6,7,8, Pei-Yu Wang9
1Department of Surgery, School of Medicine, College of Medicine, Taipei Medical University, Taipei, 11031, Taiwan.
Clinical Epigenetics
|July 21, 2025
Summary
New breast cancer biomarkers, methylated GCM2 and TMEM240 in plasma, show high accuracy for monitoring disease progression. This noninvasive method improves upon existing tests for detecting metastasis and treatment response.
Area of Science:
- Oncology
- Molecular Diagnostics
- Biomarker Discovery
Background:
- Breast cancer is a leading cause of death globally, with a significant percentage of early-stage patients developing metastasis.
- Current diagnostic markers like CA15-3 and CEA have limited sensitivity (60-80%) for detecting metastasis.
- There is a critical need for more accurate noninvasive tools to monitor breast cancer progression.
Purpose of the Study:
- To investigate the potential of circulating methylated GCM2 and TMEM240 DNA as novel biomarkers for breast cancer.
- To evaluate the efficacy of these biomarkers in noninvasively monitoring disease progression, treatment response, and tumor burden.
Main Methods:
- A prospective study in Taiwan (396 patients) and a retrospective study in Western populations (134 samples) were conducted.
- Plasma cell-free DNA (cfDNA) was analyzed for GCM2 and TMEM240 methylation using quantitative methylation-specific PCR (QMSP).
- Monte Carlo cross-validation (1000 replicates) was used to assess biomarker performance, including sensitivity, specificity, and accuracy.
Main Results:
- The combined GCM2 and TMEM240 methylation assay achieved 95.1% accuracy, 89.4% sensitivity, and 96.5% specificity in validation cohorts.
- Performance significantly surpassed traditional biomarkers (CA15-3, CEA) in detecting metastasis and disease progression.
- Methylation levels correlated with disease stage, tumor size, metastasis, and response to treatment, with decreased levels indicating treatment response and increased levels indicating progression.
Conclusions:
- Detecting methylated GCM2 and TMEM240 in plasma provides a highly accurate and noninvasive method for monitoring breast cancer.
- These novel biomarkers offer a significant advancement for managing breast cancer patients.
- The findings support the clinical utility of GCM2 and TMEM240 for tracking treatment efficacy and tumor burden.
