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Updated: Aug 16, 2026

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
RASSF1A gene promoter methylation in esophageal cancer specimens
S Yamaguchi1, H Kato, T Miyazaki
1Department of General Surgical Science, Gunma University Graduate School, Graduate School of Medicine, Maebashi, Gunma, Japan.
Abstract:
SUMMARY. RASSF1A is frequently inactivated by promoter methylation in human cancers. To understand the involvement of the RASSF1A gene in esophageal squamous cell cancer (ESCC), we investigated the methylation of the RASSF1A gene in primary ESCC to define the frequency of this epigenetic aberration and its clinicopathological significance. Methylation-specific polymerase chain reaction (MSP) was used to detect RASSF1A gene methylation in DNA from 55 cases of ESCC. Methylation of the RASSF1A gene was found in 13 of 55 (24%) cases of primary ESCC. No association was found between the promoter methylation of the RASSF1A gene in primary ESCC and age, gender, localization, invasion depth, or tumor stage. Association was found with tumor differentiation. There was no correlation with its prognosis. In conclusion, it was suggested that an inactivation of the RASSF1A gene due to promoter methylation was associated with de-differentiation of the tumor in ESCC.
Insights
RASSF1A gene promoter methylation inactivates this tumor suppressor in 24% of esophageal squamous cell cancer (ESCC) cases. This epigenetic change correlates with tumor de-differentiation but not prognosis.
Area of Science:
- Oncology
- Molecular Biology
- Epigenetics
Background:
- The RASSF1A gene acts as a tumor suppressor and is frequently inactivated by promoter methylation in various human cancers.
- Understanding the role of RASSF1A in esophageal squamous cell cancer (ESCC) is crucial for identifying potential therapeutic targets and diagnostic markers.
Purpose of the Study:
- To investigate the frequency of RASSF1A gene promoter methylation in primary ESCC.
- To determine the clinicopathological significance and prognostic value of RASSF1A methylation in ESCC.
Main Methods:
- Methylation-specific polymerase chain reaction (MSP) was employed to detect RASSF1A gene methylation.
- DNA from 55 primary ESCC cases was analyzed for RASSF1A promoter methylation status.
Main Results:
- RASSF1A gene promoter methylation was detected in 13 out of 55 (24%) primary ESCC cases.
- No significant association was found between RASSF1A methylation and patient age, gender, tumor localization, invasion depth, or tumor stage.
- A significant association was observed between RASSF1A promoter methylation and poor tumor differentiation.
Conclusions:
- RASSF1A gene inactivation via promoter methylation is a common epigenetic event in ESCC.
- RASSF1A methylation is associated with tumor de-differentiation in ESCC, suggesting a role in cancer progression.
- RASSF1A methylation status does not appear to correlate with the prognosis of ESCC patients.
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