Among all breast cancers diagnosed in France, 5 to 10% are of genetic origin. It is estimated that approximately 2 in 1,000 women carry a mutation in one or other of the BRCA 1 and BRCA 2 genes. These genes – whose name is the abbreviation of breast cancer, French – participate in the repair of damage that the DNA of each cell regularly undergoes. But the presence of mutations in one or the other of these two genes increases the risk of developing breast cancer at a young age, before or even long before menopause. The risk of developing breast cancer in these women carrying the mutation is estimated between 40 to 80%. These mutations also increase the risk of developing cancer of both breasts (bilateral). These women therefore have a so-called “very high” risk of developing breast cancer.
Before the age of 30, monitoring consists of an annual clinical breast examination. Imaging screening may be initiated if the woman has a family history. From the age of 30, an annual MRI and mammogram are recommended alternating with an annual clinical examination so that monitoring is biannual.
From the age of 30, a bilateral mastectomy may be offered. This prophylactic mastectomy can be performed later during follow-up. “Prophylactic mastectomy significantly reduces the risk of breast cancer: after this intervention, the residual risk of breast cancer is very low, less than 5% over the course of life, because sometimes the intervention does not make it possible to remove all of the breast tissue,” specifies the Gustave Roussy anti-cancer center (Villejuif). Breast surveillance is therefore maintained but largely reduced.
A history of breast cancer or ductal or lobular carcinoma in situ
If the woman has had breast cancer or ductal carcinoma in situ (proliferation of cancer cells inside the duct), a clinical examination should be carried out every 6 months for 2 years following the end of treatment and then every years. An annual unilateral or bilateral mammogram should also be performed. It can be supplemented by an ultrasound.
Atypical ductal or lobular hyperplasia
In the event of a history of atypical ductal or lobular hyperplasia (proliferation of the number of cells) or lobular carcinoma in situ, monitoring consists of performing an annual mammogram for 10 years, in possible association with an ultrasound. If, at the end of this period, the woman is 50 years or older, she is encouraged to participate in the organized screening program. If the patient is under 50 years old, a mammogram in possible association with an ultrasound will be offered to her every 2 years until the age of 50. She will then be able to join the organized screening program.
High-dose medical chest irradiation
If there is a history of high-dose medical chest irradiation (in the treatment of Hodgkin’s disease), it is recommended to perform a clinical examination and an MRI every year, starting 8 years after the end of the treatment. irradiation (at the earliest 20 years for clinical examination and 30 years for MRI). And, in addition, an annual mammogram and possible ultrasound are recommended by the High Authority of Health.
Family history of breast cancer
Studies show that the risk of developing breast cancer increases when a first-degree relative (mother, sister, daughter) has developed breast cancer, especially if the diagnosis was made at a young age (before menopause). HAS recommends specific screening when women aged 20 and over have a family history and an Eisinger score greater than or equal to 3, even in the absence of identification of a BRCA 1 and BRCA gene mutation. 2 in the family.
The Eisinger score is a family pedigree analysis score used to validate the indication for an oncogenetic consultation. It makes it possible to grade the risk of genetic predisposition to breast cancer in the absence of an identified familial mutation. This can be high or very high.
Note: in its latest publication concerning breast cancer screening methods based on risk, the National Cancer Institute places the history of endometrial and uterine cancers as high risk.
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Source: Destination Santé
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