Related Experiment Video
Updated: May 28, 2026
07:50
Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
P16 DNA Methylation Coupled with Somatic Copy Number Variations in the Development of Gastric Carcinomas
Ziqian Yang1, Jing Zhou1, Lewen Deng1
1Key Laboratory of Carcinogenesis and Translational Research (MOE/Beijing), Division of Etiology, Peking University Cancer Hospital and Institute, Beijing 100142, China.
Cancers
|May 27, 2026
Summary
Genetic alterations and DNA methylation of the tumor suppressor gene P16 are linked in gastric cancer development. These combined changes in P16 inactivation promote cancer metastasis.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Tumor suppressor genes are frequently inactivated through genetic and epigenetic alterations.
- The interplay between genetic changes and epigenetic modifications of tumor suppressor genes like CDKN2A/P16 in gastric cancer remains unclear.
Purpose of the Study:
- To investigate the relationship between genetic alterations (copy number variations) and epigenetic changes (DNA methylation) of the P16 gene in gastric cancer.
- To determine if these combined alterations are associated with gastric cancer progression and metastasis.
Main Methods:
- Analysis of P16 copy number and promoter DNA methylation in 200 gastric carcinoma (GC) samples and paired noncancerous tissues.
- Utilized P16-Light assay for copy number determination and MethyLight assay for DNA methylation analysis.
- Correlated genetic and epigenetic data with clinicopathological information, including metastasis.
Main Results:
- Significantly lower P16 copy number and DNA methylation levels were observed in GC samples compared to noncancerous tissues.
- Both P16 copy number variations and promoter methylation were associated with GC metastasis.
- P16 somatic copy number deletions (SCNdel) were more frequent in GCs lacking P16 methylation, suggesting complementary inactivation mechanisms.
Conclusions:
- Somatic P16 copy number variations and P16 promoter DNA methylation are closely coupled during gastric cancer development.
- SCNdel and promoter DNA methylation act complementarily to inactivate P16, contributing to gastric cancer development and metastasis.
Related Concept Videos
01:37Epigenetic Regulation
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
X-chromosome...
01:46Epigenetic Regulation
Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
02:21Cancers Originate from Somatic Mutations in a Single Cell
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
02:21Cancers Originate from Somatic Mutations in a Single Cell
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
02:30Genomic Imprinting and Inheritance
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...