Genetic studies and targeted therapies: what they are and when to use them

What are genetic studies?

Genetic studies must be differentiated, on the one hand, studies of familial inheritance risk of cancer, and on the other hand, genomic studies. In genomic studies, we look for a series of known mutations in a known panel, and this provides us with information to be able to carry out directed treatments or target treatments on mutations that are actionable with known drugs.

What are targeted therapies?

Until now, conventional treatments were used that used drugs independently of the genomic signature, and the drug was used to treat the tumor. Currently, with targeted therapies we are looking for the different mutations with molecular alterations, and drugs are used directly to treat these alterations, so that personalized therapies can be carried out. There is no longer a single type of lung cancer or a single type of colon cancer, but rather we have a cancer that has developed due to a specific alteration that can be treated independently.

So are targeted therapies specific for each pathology?

Targeted therapies are pathology-specific, but they are really specific for each alteration within each pathology. That is to say, there are targeted therapies that can be the same for breast cancer or colon cancer. For example, we have a HER2 alteration, which is a membrane protein for which we have a targeted therapy that can be used for breast cancer, gastric cancer or other types of tumors that may have that alteration.

How many targeted therapies do we have at present?

There are countless, there are many drugs that are about to come out, others that we had and others that are very old. The most famous and perhaps the first targeted therapy we have had is ozone therapy, but to count the exact number of targeted therapies today is practically impossible.

What are the most common or famous targeted therapies?

For example, a targeted therapy that revolutionized a type of breast cancer, HER2-positive breast cancer, with the arrival of ANTIHER 2 treatments, such as Trastuzumab or Peruzuma… On the other hand, we have very specific targeted therapies in lung cancer, with patients with an ALK or EGFR mutation, which are targeted therapies against those alterations.

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In colon cancer, if we have an alteration in BRAF, K-RAS or N-RAS, they can also be treated with targeted therapies against those specific alterations.

Although it is not considered a targeted therapy as such, we can also mention immunotherapy, which after all are highly targeted therapies in which the patient’s immune system is used to treat highly targeted alterations.

What indications are followed when choosing a targeted therapy in the face of conventional treatments?

From the first moment, when there is a suspicion of cancer, when the biopsy is performed, the possible molecular alterations should already be determined, either to treat at that moment or later. However, the sooner we know the biology of the tumor and its alterations, the sooner the available targeted therapies can be used.

How do targeted therapies work?

First, the tumor is diagnosed. A biopsy is performed, and a series of studies are carried out in which the results are already targeted, and we already know more or less the main tumor alterations. If we want to know everything, genomic platforms are performed.

Once the alteration is known, we act either with the monoclonal antibody or with a combination of drugs.

Once the treatment is initiated, it works according to each alteration. There are drugs that are tyrosinkinase inhibitors and in some cases different targeted therapies can be used in the same patient.

How are the results with targeted therapies?

Targeted therapies are not for all tumors or for all patients. Generally, if we have an actionable molecular action with drugs, the results are better than when using conventional treatments in which we try to look for answers without knowing the exact mechanism that triggers it.