Cancer, when and why genetic tests

Breast cancer, the treatment that ignites the hope of young patients

BRCA genetic tests are valuable tools for identifying a high risk of developing breast, ovarian, pancreas and other cancers

"Tell me what DNA you have and I'll tell you what you're going to get sick of!" It seemed like a dream some time ago. But today, thanks to genetic studies, it is a reality.

Thanks to the knowledge on the human genetic patrimony and above all on the interactions between the different genes that come into play in the genesis of a given pathology, it will be easier to predict the appearance of diseases on the basis of the genetic patrimony. And already today you can define with these tests who is at risk.

Just think of the story of Angelina Jolie who chose to undergo a preventive mastectomy and then to remove the ovaries to drastically lower the danger of going through one or more tumors, increased by the presence of a mutation of the BRCA 1 gene.

In short, these tests are really useful when indicated, also to evaluate when to make a certain treatment and evaluate its effects. Unfortunately, however, access to the test does not represent a homogeneously guaranteed right in all Italian regions, with marked interregional differences and even within the same region.

Female genes under review: BRCA 1 and 2

BRCA1 and BRCA2 are genes that produce the proteins responsible for repairing damaged DNA and play an important role in maintaining the genetic stability of cells.

When one of these genes is mutated or altered, the respective protein is not produced or is defective, and DNA damage cannot be adequately repaired. As a result, cells are more likely to develop additional general changes, increasing the risk of developing breast, ovarian, pancreas, prostate and other cancers.

For example, women with an inheritable mutation in the BRCA1 gene are approximately 60 percent likely (against 10 percent of the general population) to develop breast cancer and about 60 percent (compared to 1- 2 percent of the general population) to get ovarian cancer throughout their lives. In the case of mutation of the BRCA2 gene, the percentages are similar for breast cancer and lower for ovarian cancer (about 20 percent).

For this reason BRCA tests represent a valuable tool to identify the presence of any situations of high genetic risk in patients with breast or ovarian cancer and in healthy young women. In line with the Recommendations of the main Scientific Societies, BRCA tests should therefore be a guaranteed opportunity for all women who could benefit from them in order to identify the most appropriate and therefore most effective personalized therapies in the case of breast cancer and / or ovarian already diagnosed, and to take appropriate preventive measures in healthy women who are BRCA-mutated.

How to manage information and when to access tests

Before the examination, of course, it is necessary to speak at length with the doctor. Careful collection of data relating to the woman is needed to find out if there have been cases of breast cancer at a young age in close relatives or if there have been multiple independent tumors in the same person, for example in the two breasts after some time or breast and ovary.

In short, the test must be preceded by a consultation which must then be repeated, together with a geneticist, so that the medical team chooses the ideal path on a case-by-case basis to help the woman. For the breast, for example, it is possible to focus on a series of much more stringent checks, also using tests not commonly used in normal screening such as repeated magnetic resonance imaging.

The important thing is to be followed, to choose with the right advice the optimal approach strategy to the "written" situation in the DNA. Instead, you don't have to rely on DIY for predictive tests. Without adequate advice, there is only a risk of undergoing unnecessary tests and stress and above all, in the event of a positive response, there is a danger of not being able to manage information correctly.

Category: Health
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