Related Experiment Video
Updated: Dec 22, 2025
08:16
Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
7.1K
Selected CDKN2A and MDM2 polymorphisms in oral cavity cancer
Jadwiga Gaździcka1, Karolina Gołąbek2, Joanna Katarzyna Strzelczyk2
1Medical University of Silesia. jgazdzicka@sum.edu.pl.
Acta Biochimica Polonica
|May 8, 2020
Summary
This study investigated gene polymorphisms in CDKN2A and MDM2 for oral cavity cancer risk in Poland. No significant associations were found, suggesting these specific genetic variations do not impact oral cancer development in this population.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Head and neck squamous cell carcinoma (HNSCC) is a prevalent and aggressive malignancy worldwide, frequently affecting the oral cavity.
- The cyclin dependent kinase inhibitor 2A (CDKN2A) gene regulates the cell cycle, while the murine double minute 2 (MDM2) gene is an oncogene involved in cell proliferation and apoptosis.
- Genetic variations, specifically gene polymorphisms, are increasingly studied for their potential role in cancer susceptibility.
Purpose of the Study:
- To investigate the association between specific gene polymorphisms in CDKN2A (rs11515, rs3088440) and MDM2 (rs769412, rs937283) and the risk of oral cavity cancer.
- To analyze the influence of these polymorphisms on clinicopathological parameters in oral cavity cancer patients.
- To assess the potential role of these genetic markers in oral cancer risk within a Polish population.
Main Methods:
- Genotyping of 95 oral cavity cancer patients and 100 healthy controls from Poland.
- Analysis of single nucleotide polymorphisms (SNPs): rs11515 and rs3088440 in CDKN2A, and rs769412 and rs937283 in MDM2.
- DNA samples were genotyped using the 5' nuclease assay with TaqMan SNP Genotyping Assays.
Main Results:
- No significant association was found between any of the investigated polymorphisms (rs11515, rs3088440, rs769412, rs937283) and oral cavity cancer risk.
- A significant protective effect was observed for AA homozygotes of rs3088440 (OR=0.046, p<0.0001), being more frequent in the control group.
- The GG genotype of rs769412 was absent in all participants, and no influence of examined genotypes on clinicopathological parameters (T, N, grading) was detected.
Conclusions:
- The studied polymorphisms in CDKN2A and MDM2 genes are not associated with an increased risk of oral cavity cancer in the Polish population.
- The rs3088440 polymorphism warrants further investigation due to its observed protective association in the control group.
- These findings suggest that genetic variations in CDKN2A and MDM2 may not be significant risk factors for oral cancer in this demographic.
Related Concept Videos
02:23Abnormal Proliferation
5.0K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
5.0K
02:15M-Cdk Drives Transition Into Mitosis
6.2K
Checkpoints throughout the cell cycle serve as safeguards and gatekeepers, allowing the cell cycle to progress in favorable conditions and slow or halt it in problematic ones. This regulation is known as the cell cycle control system.
Cyclin-dependent kinases, or Cdks, work in concert with cyclins to control cell cycle transitions. M-Cdk, a complex of Cdk1 bound to M cyclin, is a well-known example of this coordinated control that drives the transition from the G2 to the M phase.
M cyclin...
Cyclin-dependent kinases, or Cdks, work in concert with cyclins to control cell cycle transitions. M-Cdk, a complex of Cdk1 bound to M cyclin, is a well-known example of this coordinated control that drives the transition from the G2 to the M phase.
M cyclin...
6.2K
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
9.3K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
9.3K
01:05Single Nucleotide Polymorphisms-SNPs
17.7K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
17.7K