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The Importance Of The Gene Test ~ Dr. Antonio Giordano (SHRO)

Updated: Jun 24, 2023

The Importance Of The Gene Test

The genetic predisposition identifies new variants in our DNA, and whether a particular pathology might be associated with it.

To speak of familiarity with a specific type of tumor, there must be at least two cases in the family among close relatives affected by that type of tumor. Thereafter, various factors, including genetic predisposition, will determine whether it will start.

Some inherited genetic disorders have been linked to a higher risk of breast and ovarian cancer. When a woman has a BRCA1 or BRCA2 gene mutation, her risk of developing breast and ovarian cancer rises with age, reaching a peak between the ages of 41 and 50 for BRCA1 mutant carriers and 51 and 60 for BRCA2 mutation carriers, and then remaining stable until the age of 80.

It is hereditary, which means that it can be transferred from parent to kid regardless of gender. In this situation, males have a very low risk of having breast cancer—about 0.1%—but their risk rises if they have a mutation in the BRCA gene, particularly in BRCA2.

The presence of these mutations is particularly insidious since it is "autosomal dominant," which means that just one of the two copies of the gene must be "defective" to have a 50% probability of passing the mutation to the offspring. As a result, it is necessary to have a gene test done, start genetic counseling, and consider the patient's personal and family history, the type of cancer, the age at diagnosis, and the number of close relatives affected.

Blood is drawn to perform gene tests. The specialists will be able to define the risk levels from the results and develop the prevention strategy through screening and clinical exams every 6–12 months, although the program must be tailored to any specific case. The BRCA gene, which is an "oncogene," protects our body from cell replication mistakes. However, both the BRCA1 and BRCA2 mutations jeopardize this function.

There is a 70–80% chance of acquiring breast cancer and a 40% chance of having ovarian cancer if the test is positive and the BRCA gene mutation is present. When such a change happens, along with familiarity, preventive prophylactic surgery on both breast and ovary is recommended.

Many women are unaware that they are carriers of the mutation and are not evaluated in time, despite the fact that we now can have the capabilities to prevent the start of these diseases with a simple blood sample.

This article was first published by Dr. Antonio Giordano, Founder & Director of Sbarro Health Research Organization (SHRO), in Italian for Sud Reporter.

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