The Most Famous Genes in Cancer Research
Genetic research has played an increasingly large role in the development of new cancer treatments. As scientists increase their ability to identify the genetic origins of cancer, their understanding of cancer treatment and prevention also improves.
Recent developments in cancer treatment are often possible because of new knowledge in the genetics of cancer. Understanding how individual genes prevent or contribute to cancer enables researchers to devise methods that increase or decrease the activity of those genes.
For the non-scientist, however, genes can get confusing quickly. Researchers refer to genes using complicated initialisms that only sometimes have obvious origin. What are some of the most commonly studied and important genes in the history of cancer research?
RB1 significance as a tumor suppressor
RB1 is a gene that encodes the protein called “RB Transcriptional Corepressor 1”, from which it derives its name.
In the history of cancer research, RB1 is significant because it was the first tumor suppressor gene to be discovered. When working normally, RB1 protein prevents cells from unnecessarily dividing until they are ready to do so.
When RB1 protein stops working, however, cells can begin to divide rapidly and become cancerous. This commonly occurs in retinal cells, because cells in the eye are exposed to a lot of ultraviolet light. If this exposure damages the RB1 gene, a type of eye cancer can develop.
The discovery of RB1 helped demonstrate the genetics of cancer. Most people have two functioning copies of the gene, but in some families only one copy functions. In these cases, patients are at much higher risk for eye cancer, and are more likely to develop it in both eyes—it only takes one faulty mutation for cancer to begin.
Tumor necrosis factor (TNF) plays a big role in cancer, Alzheimer’s and more
TNF, or “Tumor Necrosis Factor”, is a gene that creates proteins involved in cell signaling, particularly for immune cells.
TNF is one among the most studied genes, and plays a role in a wide variety of disorders including Alzheimer’s disease, cancer, depression, psoriasis, and bowel disease.
The protein encoded by the TNF gene can create fevers, cause cells to die when they are supposed to (as opposed to replicating endlessly), and help prevent tumors. For these effects, it is often a treatment target for autoimmune diseases. If the gene becomes overactive, inhibiting it can help alleviate symptoms.
TNF protein as a treatment target in cancer is somewhat limited, although renal cell carcinoma, breast cancer, and ovarian cancer patients have shown some improvement following TNF-targeted treatments.
TP53, the most studied gene of all time
TP53 is the most studied gene of all time. It encodes a protein called “Tumor Protein 53,” an incredibly important tumor suppressor.
TP53 has been called the “guardian of the genome,” and for good reason. When functioning properly, the gene helps prevent mutations. It does this by pausing the life of a cell when there is risk of damage, repairing damage to the cell when possible, and initiating a cell’s death when the damage is too much to repair.
It’s well-deserving of its moniker. TP53 is mutated in more that 50% of all cancers.
As such, TP53 protein is an important target of cancer research. As understanding of how TP53 interacts with other genes to cause and prevent cancer improves, so too will the potential for cancer treatment.
BRCA1/BRCA2, the breast cancer genes
Breast cancer is a scientifically and culturally popular topic, and BRCA genes are highly studied for their connection to breast and ovarian cancers. The name BRCA is derived from “breast cancer.”
BRCA1 and BRCA2 are two of the most studied genes related to breast cancer. Strictly speaking, the genes are not closely related to each other in terms of their structure. However, both genes are typically active in breast tissue, and perform similar functions.
BRCA genes are tumor suppressors. They act by repairing damage to DNA that occurs during cell replication (and from other sources), and can kill cells that are too damaged to repair. This helps prevent mutations that can lead to rapid multiplication—cancer.
When BRCA1 or BRCA2 proteins are not functioning properly, risk of breast cancer increases sharply. About 12% of women will experience breast cancer at some point in their life—but that number increases to as much as 65% in women with mutations in one or both of these genes.
The dramatic nature of this effect means that BRCA genes are important subjects of study in the development of new cancer treatments.
- RB1 was the first tumor suppressor gene discovered, and was important in demonstrating the genetic basis of cancer. When it isn’t working properly, eye cancer is the most common result.
- TNF is an important tumor suppressor that plays a role in autoimmune disease, inflammation, and cancer. It is among the most studied genes.
- TP53 is the most studied human gene. It protects against cancer by repairing damaged DNA, and is malfunctioning in over 50% of cancers.
- BRCA1 and BRCA2 are genes that help repair DNA in breast tissue. When they do not function properly, risk of breast cancer increases sharply.
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