Related Experiment Video
Updated: Dec 7, 2025
06:52
Discovery of Driver Genes in Colorectal HT29-derived Cancer Stem-Like Tumorspheres
Published on: July 22, 2020
6.8K
Genetic Variants in the Regulatory T cell-Related Pathway and Colorectal Cancer Prognosis
Sonja Neumeyer1,2, Xinwei Hua3,4, Petra Seibold1
1Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Summary
Genetic variations in T regulatory cell (Treg) pathways, specifically in the TGFBR3 gene, are linked to improved colorectal cancer survival. These findings highlight potential new targets for understanding and treating colorectal cancer prognosis.
Area of Science:
- Oncology
- Immunology
- Genetics
Background:
- High tumor-infiltrating lymphocytes, including T regulatory cells (Tregs), correlate with better colorectal cancer survival.
- Tregs mediate immunosuppression in cancer; thus, genetic variants in Treg-related genes may influence colorectal cancer prognosis.
Purpose of the Study:
- To investigate the association between genetic variations in 58 T regulatory cell-related genes and survival outcomes in colorectal cancer patients.
- To explore potential effect modification by microsatellite instability (MSI) status on these associations.
Main Methods:
- A prospective cohort study of 3,593 German colorectal cancer patients.
- Assessed 771 single-nucleotide polymorphisms (SNPs) in 58 Treg-related genes using Cox regression models.
- Replicated significant findings in 2,047 patients from the International Survival Analysis in Colorectal Cancer Consortium (ISACC).
Main Results:
- A significant association was found between the TGFBR3 SNP rs7524066 and more favorable colorectal cancer-specific survival, which was successfully replicated.
- Suggestive evidence linked two IL7 SNPs (rs16906568 and rs7845577) to survival outcomes.
- Thirteen SNPs showing differential associations based on MSI status in the discovery cohort were not confirmed in replication analyses.
Conclusions:
- Common genetic variations within the T regulatory cell pathway, particularly involving TGFBR3 and IL7 genes, are associated with colorectal cancer patient prognosis.
- These findings suggest that genetic factors influencing Treg function play a role in colorectal cancer outcomes.
Related Concept Videos
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
9.1K
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...
9.1K
02:07Tumor Progression
7.0K
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
7.0K
03:03mTOR Signaling and Cancer Progression
4.5K
The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
The mTOR pathway or the...
4.5K
01:12Loss of Tumor Suppressor Gene Functions
5.6K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
5.6K
01:33Cancer-Critical Genes I: Proto-oncogenes
10.6K
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...
10.6K
01:20The Retinoblastoma Gene
4.5K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.5K