When to request a genetic study for breast cancer?
What is the purpose of a genetic cancer study?
What is it and why apply for it?
Learn about this and more in the following lines.
What is the genetic study of breast cancer?
The highest proportion of breast cancer cases are sporadic, that is, they appear due to the accumulation of mutations during the woman’s life without a hereditary component in the appearance of the disease.
However, there is a proportion of around 10% where a hereditary predisposition to cancer appears, as a result of mutations in certain genes inherited from the parents.
As a result, one-third of hereditary breast cancers come from mutations in the BRCA1 gene, another third from BRCA2, and the rest from other genes.
Finally, cases associated with BRCA1 mutations occur in premenopause (mean age of 42 years); while alterations in the BRCA2 gene also occur in males.
Reasons to have a genetic test for breast cancer
Families with a single case of breast cancer
Bilateral primary breast cancer before age 40.
Breast cancer before age 30.
Breast and ovarian cancer in the same patient.
Families with two cases in first-degree relatives
Breast cancer diagnosed in at least 2 members of the family group; at least one before the age of 50 or bilateral.
Two or more cases of ovarian cancer.
Breast cancer and ovarian cancer in two relatives.
One breast cancer in a woman and another in a man from the same nucleus.
Families with three or more members affected by breast cancer; at least two of them in the first degree (mothers, daughters or sisters).
How is the genetic test for breast cancer performed?
The BRCA1 / BRCA2 test is an advanced genetic analysis that studies the predisposition to suffer from breast or ovarian cancer due to hereditary factors; that is, if there has been a family history.
In this sense, certain percentages are handled according to the mutation detected in the BRCA genes:
Alteration of the BRCA1 gene
Between 36% and 85% lifetime risk of developing breast cancer.
Between 40% and 60% lifetime risk of developing a second breast cancer (not related to the recurrence of the first tumor).
Between 20% and 60% lifetime risk of developing ovarian cancer.
Alteration of the BRCA2 gene
Between 36% and 85% lifetime risk of developing breast cancer in women.
6% lifetime risk of developing breast cancer in men.
Up to 27% lifetime risk of developing ovarian cancer.
To carry out this evaluation, the test includes the complete sequencing of the BRCA1 gene and the BRCA2 gene.
Once the sample is taken, the laboratory analyzes and prepares a report so that the patient can obtain their results.
Benefits of Breast Cancer Genetic Testing
Undoubtedly, the application of a cancer genetic study offers potential benefits to people who decide to perform it, since they allow uncertainty to be alleviated and promote timely decision-making to channel their medical care.
The results that a genetic study can yield are summarized as follows:
Negative result. Although it does not rule out the possibility of developing cancer, it reduces the level of uncertainty. However, taking into account that most tumors are sporadic; Regular medical check-up should not be neglected. In addition, there may be other genes linked to hereditary cancer that were not included in the genetic study.
Positive result. It indicates that there is a genetic variant that increases the risk of hereditary cancer or, in case the person already has the disease, this variant may explain the origin of the development of the tumor; an important piece of information when assessing treatment options.
Inconclusive result. This result means that a variant of uncertain significance has been found in the DNA. Evidently, scientific knowledge is limited and sometimes conflicting; as it is advisable to follow up on the results and try to clarify the variant in the future.
Advantages of early detection of breast cancer
First of all, breast cancer is usually detected after the first symptoms appear, but unfortunately many women do not have them.
For this reason, it is very important to do routine screenings.
Breast cancer that is detected in its early stages (when it is small and has not spread), is easier to treat to obtain good results.
In this sense, screening is the most reliable way to do this.
For this reason, women aged 40 to 44 have the option of initiating screening with an annual mammogram, while those aged 45 to 54 should undergo a mammogram.
Starting at age 55, they can have a mammogram every 2 years or choose to continue their annual mammograms.
Finally, all women should remain alert to any warning signs and consciously control their health; so that you can take action in a timely manner.
