It is estimated that around 5 in 1000 women carry a mutation in the BRCA1 or BRCA2 gene ( Reference Pujol et al. cancers 2022 ). These mutations predispose to a risk of breast cancer and ovarian cancer. “Women with the BRCA1 or BRCA2 gene variation have a 7 in 10 chance of developing breast cancer in their lifetime and a 3 in 10 chance of developing ovarian cancer”, informs Professor Pascal Pujol‚ head of the Oncogenetics department at Montpellier University Hospital and President of the French Society of Predictive and Personalized Medicine. Men can also carry mutations in the BRCA genes and can develop cancers associated with this mutation, such as breast cancer, prostate cancer, and pancreatic cancer.
Who is the BRCA test offered to?
The BRCA genetic test was offered until a few years ago to women meeting certain criteria‚ for example those with three cases of familial breast cancer‚ those who had in their family a case of breast cancer in a young or young woman. in a man. “We realized that one in two women with breast or ovarian cancer linked to a BRCA mutation did not meet these old oncogenetic criteriaindicates Professor Pascal Pujol. This is why the rule has become that any woman with ovarian cancer, breast cancer or a man with prostate cancer must be screened for the BRCA mutation.explains the oncogeneticist interviewed.
This is not yet the case for everyone unfortunately. Professor Pujol specifies that learned societies are fighting so that all people with such cancer benefit from BRCA mutation research and that this genetic test is covered by Social Security. BRCA targeted treatments can in fact be offered to them, which changes their vital prognosis. “It is no longer just a family history that dominates this genetic test‚ it is precision genomic medicine that saves lives”insists Professor Pujol.
BRCA mutation: how do I know if I am affected?
If you have breast, ovarian or prostate cancer, the oncologist may refer you to a oncogenetics consultation during which a genetic test for the BRCA gene can be performed. This is then a therapeutic testing. You may also be required to carry out family testing if one of your first or second degree relatives (your father‚ mother‚ brother‚ sister‚ cousin) knows they are a carrier of these mutations on the BRCA gene. The person who knows they have such a mutation has the obligation to inform their loved ones. “It’s been a medico-legal process since 2013”, specifies the doctor interviewed. If family members no longer speak to each other, it is the doctor who will provide this information to the people concerned at the patient’s request. Once informed of the presence of a BRCA mutation in a relative, a person is not required to take this BRCA test. It must be voluntary.
How is a BRCA test done?
As part of family testing a first consultation first makes it possible to assess the risk with the collection of the person’s medical information, the reconstruction of the personal and family history and the construction of the family tree. Depending on the assessment of the potential risk of cancer‚ a genetic test may be offered as a second step.
THE genetic test is a blood test carried out in one of the laboratories of the national oncogenetic system using a simple blood test. It takes a week (when the BRCA test is targeted at a genetic variation specific to the family) to 3 months (if the test is expanded) to get the results. These are provided as part of a genetic consultation. “The interpretation of these tests is easy and most molecular biology laboratories are able to say that there is a pathological variation on the BRCA1 or BRCA2 gene,” underlines Professor Pujol.
BRCA mutation carrier: what prevention strategy?
People in whom a pathological mutation has been identified which predisposes to certain types of BRCA 1 or 2 gene cancers are invited to enter a Personalized Monitoring Program (PPS) in the event of very high risk. This allows monitoring or preventive surgery. Women carrying this mutation therefore benefit from a breast MRI every year from the age of 25, men carrying the mutation are invited to undergo annual screening for prostate cancer from the age of 40 with a clinical examination and measurement of the PSA level. To prevent ovarian cancer, women with a BRCA gene mutation are advised to remove their ovaries after the age of 40 for the BRCA1 gene and before menopause for the BRCA2 gene. “Detecting this mutation and implementing personalized monitoring helps prevent death from breast or ovarian cancer in one in four women carrying this mutation,” explains Professor Pujol.
Be careful with BRCA genetic tests carried out without a medical prescription!
Do you want to know if you have a BRCA mutation? Professor Pujol warns you against low-cost tests found on the Internet. “This low-cost genetic sequencing does not give good results,” explains Professor Pujol who insists on the fact that in addition to the risk of having a false result‚ the announcement of such a mutation is a medical result which requires to be announced by a doctor. In addition‚ when carrying out a BRCA genetic test in one of the laboratories of the national oncogenetic system‚ psychological support is systematically offered. Doing this test outside of this framework does not allow you to benefit from it “while this situation is very anxiety-provoking” underlines the onco-geneticist interviewed.
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⋙ Hereditary cancer: which cancers can have a genetic origin?
⋙ Testimonial: “Carrying the BRCA1 gene, I decided to have my breasts removed”
⋙ Breast cancer: can we reduce the risks?