BRCA Gene Mutations: Screening, Treatment, and Risk Reduction Strategies

2024-03-23 05:00:00

This “damaged” gene is passed down from generation to generation. “When we carry this type of mutation, we know that these patients have a much higher risk of having breast and ovarian cancer. So, we must put them in a different risk category from the population, in general. We must therefore adapt screening to their risks. Adapting screening to a high risk of breast cancer means either doing imaging (the radiological option) every 6 months from the age of 25, or we can remove the breast”specifies Daphné t’Kint.

Removing the breast greatly reduces the risk of cancer, says the expert. “And if we offer it much more today, it is because the techniques for removing the chest and especially for reconstructing it have evolved enormously. Today, these are much less mutilating operations than there are 15 years old. Bilateral prophylactic mastectomy is a real option to consider in patients with a BRCA gene mutation.”

Most often, reconstruction by prosthesis is proposed. “It’s quick, effective. In terms of scars, there is only one, which is invisible. It works very well. We can also offer more serious surgeries, without prostheses, with autologous tissue. But there are risks of complications here. In these contexts, we must emphasize the benefit of being treated in a reference center. This is very important, especially for this type of surgery. There are an oncology surgeon who will remove the mammary gland and a plastic surgeon who will reconstruct it. So, if we do not go to a reference center, it is the plastic surgeon who will remove and reconstruct it, but he will not remove it well because it is not his job.”

This treatment remains rare because BRCA mutations affect approximately one in 650 people. “These remain rare diseases with significant consequences. It is important to go to reference centers.”

BRCA mutations are looked for in Belgium in very specific cases. There are therefore criteria for carrying out a genetic analysis and for searching for these mutations.

“We are going to do this type of test in patients who have had early cancer diagnosed before the age of 40, or who have a family history of breast or ovarian cancer…”specifies the onco-geneticist.

If one parent is a carrier, they must notify their family. Children, when they come of age, are then authorized to take a genetic test, looking for the so-called “familial” mutation of the BRCA gene. If they are carriers (there is a one in two risk), screening begins from the age of 25 for women. “There is no urgency to know your genetic status at 18. Women should ideally take a genetic test, if it is known in their family, somewhere between 18 and 25. That way, if they are carriers, they can start screening. This happens later for men, for whom screening is recommended from the age of 40.”

Dr Daphné t’Kint wants to reassure people carrying this BRCA gene mutation.

“If you are a carrier, the benefit of being well informed, of going to reference centers to benefit from cutting-edge care. Today, it is no longer inevitable to carry a mutation BRCA. This is a risk category. If patients are informed and cared for by a good team, they have similar qualities of life to everyone else. When you carry a BRCA gene mutation, you do not inherit cancer, but you inherit a higher predisposition to cancer. For carriers, this is not a sentence. Knowing your mutated or non-mutated genetic status means being able to act and put in place methods that work well today, and to which we have access in Belgium.”concludes the specialist.

Breast cancers are generally treatable.

Véronique Le Ray, the medical director and spokesperson for the Cancer Foundation, for her part indicates that there are no symptoms specific to the BRCA 1 or 2 gene mutation. “On the other hand, the symptoms for breast or ovarian cancer are always valid. Ovarian cancer is often diagnosed late. It goes unnoticed for a very long time”she says. “On the other hand, for breast cancer, you can self-analyze yourself once a month, a week after your period. It’s good to examine your breasts in the shower, because that’s when you learn to know your breasts and you can notice a change in color, a change in symmetry, a retraction of the skin of the nipple, or a small lump. This is something important, which is valid for all breast cancers For ovarian cancer, if you have abdominal pain, if there is a significant change in the cycle, it is good to consult your gynecologist. There are no specific symptoms, but yes the symptoms are the same as breast cancer, or ovarian cancer.”

Is there an increased risk from a certain age?

“Breast cancers, in general, are treatable well. It is the leading cancer in women. There are 11,000 cases per year. But in younger women, it is more the triple negative that we find. When we find the latter, we will immediately do a genetic analysis to see if there is a mutation in the BRCA 1 gene. Because that changes the situation and we find this genetic mutation more often in young women.” underlines Véronique Le Ray.

Can we “intercept” cancer in women at risk or announce a future tumor?

“There is a lot of research being done at the level of genetic analyses, at the level of biomarkers (biological markers, which will tell if there is something happening). This is making enormous progress. The Cancer Foundation has started to award grants and calls for projects in prevention, whether for the breast or for something else, in 2022 and 2023. Yes, there is a lot of progress, especially at the biomolecular level, in the research of breast cancer, in research to identify biomarkers.
And when we identify a biomarker, we can also look for new treatments, which will target these markers.”

And to add: “There are more than 50 anticancer treatments that have been developed, against more than 20 genes giving rise to already mutated cancers. Yes, research is progressing strongly to identify biomarkers, which will tell that there is something wrong not. And at the therapeutic level, there are already more than 50 anticancer molecules, directed against cancers of genetic origin.”

Breast cancer: should we encourage people to get screened?

“Screening is very expensive. We all carry more than 200 mutations. We all have gene mutations. But not all mutated genes give rise to cancer. The message that the Cancer Foundation wants to convey is : ‘Examine your breasts every month a week after your period, know them. If you have any doubts, don’t wait. Go directly to your general practitioner or your gynecologist to say that you are afraid, that something is wrong. is not going well. Do not hesitate to talk about it and if you feel something changing in the breasts, and if you have a history of cancer in the family. With these two parameters, you are already very lucky to be diagnosed very early with breast cancer. However, you should not go and prescribe a mammogram at puberty. It is much too expensive and not useful. This creates an attitude that has no reason to be. When you carries out screening in the 50-74 age groups, the mammotest is reimbursed. There is systematic screening at the population level. We will screen people who are at the age with the greatest risk. All other people do not have access to free testing, but do have access to testing. If you want to get tested, you can always request it but it will be partially reimbursed. The mammotest costs nothing, but if there is an additional consultation or ultrasound, it can cost up to 30 euros more. If we do it ourselves, there is a part reimbursed by the mutual fund but it is not free. There is a part that must be paid by the patient. It’s not hundreds of euros either.”

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