2023-10-28 15:00:00
In 2013, actress Angelina Jolie’s double mastectomy caused a stir. Through this revelation, the world discovered prophylactic surgery in oncology. The star, suffering from a hereditary genetic mutation, thus made the decision to reduce her risk of developing breast cancer at the age when her mother died of it, at 56 years old. This preventive intervention the Alsace-Lorraine network GENECAL included it in its support program for families at high risk of cancer detected through genetic screening.
In Lorraine, these explorations take place at the CHR Metz-Thionville, at the ICL and at the laboratory of onco-genetics at the Nancy CHRU headed by Dr. Laëtitia Lambert. This service focuses on genetic modifications associated with an increased risk of developing cancer: digestive, pancreatic, renal, etc. For the cancer be you , the main genes involved are BRCA1 and 2, and PALB2 for the most recently discovered.
“Prevention, rather than cure”
If you have inherited these markers known since the 1990s, the probability of developing breast cancer at age 70 increases by 60 to 80% (12% in the general population). That of triggering ovarian cancer, 50% (1 to 2% in the general population). To a lesser extent, the pancreas and prostate are also exposed. This predictive medicine, which can be perceived as anxiety-provoking since it does not detect a declared illness, but a risk increased by heredity, makes sense for Axelle Rivière. Genetic counselor at the Nancy University Hospital, she considers the approach relevant insofar as it is fully anchored in a prevention approach. “Prevention rather than cure” is the credo of the onco-genetics department.
“The advantage of these tests is threefold,” indicates Dr Jean-Marie Ravel. First, the patient will benefit from “early monitoring adapted to the risk”. Then, “if a tumor appears, we will be able to implement specific treatments which have indications in the event of mutation of the BRCA1 and 2 genes,” explains the genetics specialist. Finally, “finding a genetic predisposition will also make it possible to propose a mutation to research relatives (brothers, sisters, children and parents).
“The earlier we detect the presence of a tumor, the lighter the treatment will be”
Thus, for women carrying BRCA1 and 2 anomalies, a breast MRI, an ultrasound and a mammogram will be recommended every year, from the age of 30. “The earlier we detect the presence of a tumor, the lighter the treatment will be. We will perhaps avoid chemotherapy, for example,” says Axelle Rivière. In the general population, monitoring is recommended from the age of 50, with a mammogram every two years until the age of 74.
To protect themselves from breast cancer, some also resort to the prophylactic mastectomy that Angelina Jolie underwent. This operation, which has serious consequences, both physical and psychological, is closely regulated in France. “In the case of very high risk, this intervention is possible and reimbursed by Social Security,” stipulates Jean-Marie Ravel. To have access, you must have a proven mutation in the gene predisposing to breast cancer. However, “mastectomy can also be performed in rare situations where there is a notion of very high risk, without mutation,” notes Jean-Marie Ravel. For example, when there is a family history of cancer that appeared at a young age. “Family history is also analyzed and monitoring is not only linked to the results of the genetic examination,” specifies the practitioner who assures that “psychological support is always offered upstream.”
“In our work, there is an obvious ethical and psychological dimension,” continues Jean-Marie Ravel. Not everyone reacts the same way to the notion of risk. Some will experience the diagnosis as a sword of Damocles, others as a chance to escape the disease. I must say that most patients see it as an opportunity. But the perception of this announcement and its repercussions on the existence of patients are well taken into account. » Finally, to date, medicine has not yet found a way to correct these defects in genes predisposing to cancer. At least, not yet.
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