What is the genetic risk of breast cancer and what must we know?

What is the genetic risk of breast cancer and what must we know?

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In this blog entry, I am going to explain what it means to have genetic risk of suffering from breast cancer, as it is higher than the general population.

A woman with no genetic risk of breast cancer has a probability of developing breast cancer of approximately 10-15%. In some women, there is a genetic base and inheritance that predisposes them to suffer from it, and there are numerous genetic mutations that are associated with a greater risk of suffering from this type of cancer. The most frequent are the mutation in the BRCA1 and BRCA2 gene (these genes protect against breast cancer, but their mutation increases the risk of it), that increase the risk of getting breast cancer by 70-80% in people who experience the mutation in their lifetime.

In families in which there are cases of breast cancer with a genetic pattern, all women should be revised and tested for mutations. In the case of a positive test result, two decisions can be made: Close surveillance and the performance of imaging tests such as ultrasounds, mammograms, or MRI scans twice a year with the idea of early detection of breast cancer in case it appears. The other option is the performance of a prophylactic or preventive mastectomy, which consists of performing a mastectomy (surgical removal of breast tissue from a patient) before it even appears as breast cancer, by doing so it is possible to eliminate more than 95% of the potential risk.

In addition to the mastectomy, the tubes and ovaries are removed from the patient to avoid the risk of ovarian cancer, and the hormonal stimulation of a possible cancer. The decision to choose one or the other option must be taken together with the patient, by assessing their own personal situation, age, and any other illnesses which they already have.

And what happens after a patient has a mastectomy?

This is where the plastic surgeon comes into play, whose job is to rebuild and return the breast of the patient. Reconstruction is normally done in the same surgery in this type of case. The fact that it is immediate provides several advantages for the patient, the most important one being the positive effect it has on mental health owing to the peace of mind it gives after the potentially affected breast tissue is removed. The reconstruction of the breast also contributes to a substantial improvement in quality of life, by avoiding a long wait time which may bring consequent doubts and fears that the cancer may appear.


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