Predictive medicine, the role of genetics in the development of a tumor

Predictive medicine, the role of genetics in the development of a tumor

This episode of “Daily Health Pills” explains the importance of generic tests in the prevention and treatment of cancer

When it comes to cancer predictive medicine, an expert is always needed to guide the person, because there are data that must be managed. In any case, let’s try to give an example. There is a mutation in the BRCA1 gene, what has been defined as the Jolie gene, in reference to Angelina Jolie who a few years ago came out about her health.

Tumors and genetic mutations

Together with the presence of BRCA2, therefore another gene, the presence of this mutation leads to an increased risk of developing breast and ovarian cancer. The presence of a genetic makeup of this type indicates a greater risk of developing a tumor.

This gene is not the only one, just think of the RET gene for thyroid cancer or the APC gene for a certain type of colon cancer. But it is essential that this information is managed and that a specific monitoring and treatment path is planned for each individual.

In general terms, there are two main scenarios. A much rarer one where gene mutations are passed on from one of the parents (germline mutation). This mutation is present in all cells of the body and the tumor will be more likely to recur within the family.

More frequently, however, the mutation is somatic, that is, it arises in a single cell of the organism due to external events that damage the DNA over time. Thanks to genetic tests, specific tests can be carried out to identify the presence of one or more mutations that may be related to a tumor.

Tumors, tailor-made treatments

But especially when the disease is already present, the genetic characteristics of the cancer cell become a trace that guides drug therapy. This is very important, because it allows for tailor-made treatment. These treatments are based on the presence of particular cellular “signalers” that are able to choose a drug or another. The genetic test on diseased cells today in the case of tumors is indispensable in many situations. Just think of the ALC gene for lung cancer or the R2 mutations for breast cancer.

In the future we will go more and more towards pharmacogenomics which allows us to analyze the DNA sequences that are not responsible for diseases but that characterize each of us in relation to the response to drugs.

To follow the daily Health Pill “Cancer and Predictive Medicine”, click and listen here

“Daily Health Pills” is Tipsforwomens TakeCare’s podcast series, curated by Federico Mereta. In each episode we talk about prevention, care and good habits.

Category: Health
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