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Updated: Jul 2, 2026
Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
[Gene methylation patterns in digestive tumors]
Juan Carlos Roa S1, Patricia García M, Angélica Melo A
1Laboratorio de Patología Molecular, Departamento de Anatomía Patología, Facultad de Medicina, Universidad de La Frontera, Temuco, Chile. lcroa@ufro.cl
Background:
The loss of tumor suppressor gene function damages the defensive mechanisms that protect the indemnity of genetic material. Promoter gene methylation is one of the inactivation mechanisms of suppressor genes.
Aim:
To study the methylation pattern of a group of genes in biopsy samples of gastrointestinal tumors.
Material And Methods:
Forty eight gastric, 25 gallbladder, 24 colon and 6 pancreas cancer biopsy samples were randomly selected. The methylation pattern of CDH1, FHIT, CDKN2A, APC and MLH1 genes, was studied using a specific polymerase chain reaction test for methylation. Demographic, morphological and follow up variables of patients bearing the tumors were also analyzed.
Results:
The general methylation frequency of CDH1, FHIT, CDKN2A, APC and MLH1 genes was 64.1, 56, 39.8, 18.1 and 34% respectively. In gastric cancer samples there was a correlation between APC gene methylation and well differentiated tumors; between CDH1 methylation and Lauren diffuse type and the presence of three or more metastasic lymph nodes; between FHIT, CDKN2A and CDH1 gene methylation and male gender. In less differentiated gallbladder tumors, the frequency of CDH1 methylation was higher. There was a tendency towards a lower survival in colon and gastric cancer when MLH1 (p =0.07) y CDKN2A (p= 0.06) were methylated, respectively.
Conclusions:
An abnormal methylation pattern was associated with morphological features in gastric and gallbladder cancer and with a tendency towards a lower survival in colon and gastric cancer.
Insights
Gene promoter methylation is linked to gastrointestinal cancer progression and survival. This study analyzed methylation patterns in gastric, gallbladder, colon, and pancreas tumors, revealing associations with tumor characteristics and patient outcomes.
Area of Science:
- Molecular Oncology
- Epigenetics
- Gastrointestinal Cancer Research
Background:
- Loss of tumor suppressor gene function compromises genetic material integrity.
- Promoter gene methylation is a key mechanism for tumor suppressor gene inactivation.
Purpose of the Study:
- To investigate the methylation patterns of specific genes in gastrointestinal tumors.
- To correlate gene methylation with clinicopathological features and survival outcomes.
Main Methods:
- Analysis of biopsy samples from 48 gastric, 25 gallbladder, 24 colon, and 6 pancreas cancers.
- Methylation-specific polymerase chain reaction was used to assess CDH1, FHIT, CDKN2A, APC, and MLH1 gene methylation.
- Demographic, morphological, and follow-up data were analyzed alongside methylation patterns.
Main Results:
- High methylation frequencies observed for CDH1 (64.1%), FHIT (56%), CDKN2A (39.8%), MLH1 (34%), and APC (18.1%).
- Specific methylation patterns correlated with tumor differentiation, Lauren type, lymph node metastasis, and gender in gastric and gallbladder cancers.
- A trend towards reduced survival was noted in colon and gastric cancers with MLH1 and CDKN2A methylation, respectively.
Conclusions:
- Aberrant gene methylation is associated with distinct morphological features in gastric and gallbladder cancers.
- Gene methylation may indicate a tendency towards poorer survival in colon and gastric cancer patients.
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