Genetic counseling

Genetic counseling

What is genetic counseling in women at risk of gynecological cancer?

Cancer is a genetic disease from its origin. These genetic alterations can be hereditary, which means that the cancer is caused by mutations in the genes transmitted from their ancestors (hereditary mutations): BRCA 1-2 genes. This affects to 10 – 20% of cancers. The remaining 80-90% of malignant tumors are caused by genetic mutations acquired throughout life (acquired mutations).


Genetic counseling evaluates the family history of each individual and identifies the people who are most at risk of developing hereditary cancer. Thus, it detects the presence of mutations in specific genes related to the development of cancer that can be inherited among members of a family. The identification, then, could select certain patients to perform, either medical checks with more periodicity, or preventive surgical interventions (prophylactic). Consequently, the development of the cancer, in the affected person by the mentioned genetic mutation, would be avoided.


We also take care of advising and educating patients and family members regarding the individual risk of suffering certain mutations and, if confirmed, the risk of suffering from specific types of cancer.


What people are advised for genetic counseling?

  • Women with breast cancer detected before age 50
  • Two first-degree relatives affected with breast cancer or, breast and ovarian cancer / primary tubal / peritoneal in the same person
  • The same woman affected by breast cancer plus one of the following: thyroid, sarcoma, endometrium, pancreas, brain, stomach, leukemia.
  • Members of a family with a known genetic mutation of BRCA 1-2
  • Hebrew population Ashkenazi
  • Any man with breast cancer

It is advisable that the tests are performed on the affected person by cancer in the first instance. If a genetic mutation is detected in specific gene, then the members of the family can be studied as well. If a member of the family without cancer does not present the genetic mutation in the affected individual, the possibility of developing breast or ovarian cancer is not greater than that of the general population. If the test detects the same genetic mutation present in the individual initially affected, their risks of breast or ovarian cancer increases.


This information can be very useful to establish a cancer prevention plan in the individual affected by the genetic mutation but still without cancer. On the other hand, if you discard the presence of the mutation, you can avoid unnecessary prevention measures and unwarranted anxieties. However, knowledge of the presence of a specific genetic mutation associated with the development of a cancer can have negative consequences in other spheres. It can cause an unwanted psychological impact creating family conflicts, anxiety, guilt, depression, fear, etc.


What is the test to determine if there is a genetic mutation?

The identification of a genetic mutation can be determined by analyzing a small amount of blood from the interested patient.


What to do if a genetic mutation associated with a gynecological cancer is detected?

Conservative treatments

  • Gynecological check-up with greater periodicity: these should be performed every 6 months and should include a gynecological ultrasound, a mammogram and the blood determination of a tumor marker: Ca 125.
  • Block ovulation in women during childbearing age: this is achieved by administering oral contraceptives. Today it is known that those women who have used contraceptive pills for at least 5 years have reduced the risk of developing ovarian cancer significantly.
  • Tubal ligation: it is also a surgical procedure whereby both fallopian tubes are blocked. It is a short and relatively simple intervention that is performed by laparoscopy. From the point of view of risk prevention, it is usually the least effective.

Radical treatments

  • Prophylactic mastectomy: it consists of removing both breasts with posterior placement of prosthesis (optional) in a preventive way to prevent the development of breast cancer. This practice, however, is not 100% effective since it is practically impossible to remove all of the mammary glands from where the cancer originates.
  • Prophylactic oophorectomy: in women with mutation of genes associated with ovarian cancer, it is advisable to perform this procedure after ending your wishes for maternity. This surgical procedure is performed through a laparoscopic mini-invasive surgery and involves the removal of both apparently normal ovaries. This is the most effective measure to reduce the risk of ovarian cancer. However, patients should know that the risk is not zero (despite not having more ovaries).

Frequent questions