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Updated: Aug 11, 2026

Methyl-binding DNA capture Sequencing for Patient Tissues
Published on: October 31, 2016
Methylation of the tumor suppressor gene RASSF1A in human tumors
1Department of Biology, Beckman Research Institute, City of Hope Cancer Center, Duarte, CA 91010, USA. gpfeifer@coh.org
Abstract:
Loss of heterozygosity of a segment at 3p21.3 is frequently observed in lung cancer and several other carcinomas. We have identified the Ras-association domain family 1A gene (RASSF1A), which is localized at 3p21.3 in a minimum deletion sequence. De novo methylation of the RASSF1A promoter is one of the most frequent epigenetic inactivation events detected in human cancer and leads to silencing of RASSF1A expression. Hypermethylation of RASSF1A was frequently found in most major types of human tumors including lung, breast, prostate, pancreas, kidney, liver, cervical, thyroid and many other cancers. The detection of RASSF1A methylation in body fluids such as serum, urine, and sputum promises to be a useful marker for early cancer detection. The functional analysis of RASSF1A reveals a potential involvement of this protein in apoptotic signaling, microtubule stabilization, and cell cycle progression.
Insights
Epigenetic silencing of the Ras-association domain family 1A gene (RASSF1A) via promoter hypermethylation is common in many cancers. Detecting RASSF1A methylation in body fluids may aid early cancer diagnosis.
Area of Science:
- Oncology
- Epigenetics
- Molecular Biology
Background:
- Loss of heterozygosity at 3p21.3 is a common event in various carcinomas.
- The Ras-association domain family 1A gene (RASSF1A) is located within this frequently deleted chromosomal region.
- Epigenetic silencing through promoter methylation is a key mechanism in cancer development.
Purpose of the Study:
- To investigate the role of RASSF1A promoter methylation in human cancers.
- To assess the potential of RASSF1A methylation as a biomarker for early cancer detection.
Main Methods:
- Identification of RASSF1A within the 3p21.3 deletion region.
- Analysis of RASSF1A promoter methylation status across various human tumor types.
- Evaluation of RASSF1A methylation detection in bodily fluids (serum, urine, sputum).
Main Results:
- De novo methylation of the RASSF1A promoter is a frequent epigenetic inactivation event in human cancer.
- Hypermethylation of RASSF1A is observed in a wide spectrum of tumors, including lung, breast, prostate, and liver cancers.
- RASSF1A methylation detection in serum, urine, and sputum shows promise for early cancer diagnosis.
Conclusions:
- RASSF1A promoter hypermethylation is a significant epigenetic alteration across numerous human cancers.
- RASSF1A methylation serves as a potential sensitive and specific biomarker for non-invasive early cancer detection.
- RASSF1A's functional roles in apoptosis, microtubule stabilization, and cell cycle progression suggest its importance in tumorigenesis.
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