Hereditary breast cancer is not a doomsday scenario; there are solutions

Carriers of BRCA1 or 2 have a 60 to 80 percent chance of developing breast cancer in their lifetime. The risk increases with age, up to a certain age. Eight in 10 BRCA1 carriers have breast cancer by age 65. The BRCA1 gene also increases the risk of ovarian cancer. Ovarian cancer is actually a rare cancer, except for women with the BRCA1 gene: half of them face it by age ⁶⁵. Men who carry the BRCA1 gene have a slightly increased risk of breast cancer. Breast cancer in men is rare, the chance is about 1 in 1,000, but if a man is a carrier of BRCA1, this risk rises to 1 in 100 (1 percent).  

Women who carry the BRCA2 gene, like BRCA1 carriers, are at very high risk for breast cancer, but they are not more likely to develop ovarian cancer. Men with a BRCA2 gene have a 7 percent chance of developing breast cancer and also a 25 percent chance of developing prostate cancer. Prostate cancer often occurs in older age, but for BRCA2 men, it is more often a more aggressive cancer with a worse prognosis.  

The numbers are all punishing. A doomsday scenario. Anyone who has inherited a breast cancer gene is at high to very high risk of developing breast, prostate or ovarian cancer. How do you find out? How do you deal with that sword of Damocles? What can be done about it? Can you bring your own children into the world? These are all questions you can ask at one of the eight accredited genetic centers in our country, where specially trained genetic counselors will advise and assist you.  

Nathalie Saen is a genetic counselor at the Center for Medical Genetics at Antwerp University Hospital. "Breast cancer is very common and most cancers are not hereditary," she immediately puts into perspective. "And yes, something can be done about it." Genetic testing usually starts with a person who has the disease and where a hereditary factor is suspected. For example, if the cancer shows up at a suspiciously young age, in both breasts at the same time, or in several younger individuals in one family. The treating physician will then refer that patient to an accredited genetic center. "We start with an intake interview and explain how a genetic test is done. We also establish a pedigree, starting from the person with breast cancer," Saen said. "The test itself consists of a simple blood draw. The blood sample is then analyzed in a genetic laboratory. We also immediately schedule another interview to discuss the result. Even if no cancer gene is found, you have to realize that you can still get breast cancer. If you are not hereditary, as a woman you still have a risk of about one in eight."  

The blood sample is not only tested for BRCA1 and BRCA2. "One always tests for the presence of 19 cancer genes. Besides the breast cancer genes, there are other genes known to increase the risk of colon cancer, pancreatic cancer, stomach cancer, and so on. We always evaluate that whole set, because we know from research that cancer genes can affect each other. For example, an increased risk of colon cancer is sometimes also associated with an increased risk of breast cancer. In addition, barring BRCA1 and BRCA2, there are some other cancer genes that increase the risk of breast cancer by 20 to 50 percent." Whether you want to know all that, I ask Nathalie. "People obviously have the right not to know, but that's rarely the case. Most give their consent after we have thoroughly informed them about the consequences. You can take preventive action once you know you are a carrier."  

At least for the results, you should not call the genetic center the next day. "True, it takes a while to get the results. A normal process takes three to four months. You can think of each gene as a giant encyclopedia in which errors must be tracked down. That takes time, although it's faster today than it used to be. Before, you had to count on nine to 10 months."

There are exceptions. "Sometimes there is an urgent medical reason to find out more quickly whether a breast cancer is hereditary. If a breast cancer patient is suspected to be a carrier of a BRCA gene, there is a good chance that sooner or later the cancer will also show up in the still healthy breast. In that case, the attending physician may suggest that a genetic examination be performed first and then both breasts be removed immediately, not just the affected breast. This is a reason for urgent genetic testing. On top of that, there are additional therapy options for BRCA carriers, which are not applicable for other breast cancer patients, that too can warrant an urgent analysis. Through such an accelerated route, this can be done in about six weeks."  

Once the results are in, a follow-up interview follows. "The follow-up is very individual. It's also all very sensitive. Are you talking to a young woman who lost her mother young to breast cancer? Or has she never faced the disease before? Is there a desire for children? These are aspects we consider in the conversation. Sometimes we also need to inquire about risks of other cancers, ovarian cancer for example. People are free to have an additional conversation with the psychologist at our center. By the way, that conversation is reimbursed, just like the whole process at the genetic center. Those who wish can also come back for a second consultation at any time. Sometimes the psychologist calls spontaneously after a few weeks to ask how things are going."

Nathalie Saen notes that younger people ask more questions than older ones. "If there is still a desire for children, we explain that pre-implantation genetic testing (PGT) is an option." PGT offers the possibility of bringing children into the world who do not carry the gene. To do this, couples use in vitro fertilization (IVF) or test tube fertilization. In a lab dish, sperm and eggs are brought together. From these, embryos are created. Through genetic testing, those embryos that do not carry the breast cancer gene are selected. These healthy embryos are placed in the uterus, which in the meantime has been hormonally prepared, and so pregnancy can begin. "Women can come to the genetic center together with their partner. If they have a desire for children, I still make it clear to them that a pre-implantation process takes about eight months before a pregnancy can take place." What if the couple gets pregnant spontaneously? "Of course they can, and then they can consider a placenta test at 12 weeks of pregnancy." In a flake test, flakes of placenta are examined for genetic abnormalities. "If the embryo carries the breast cancer gene, then medically assisted termination of pregnancy can possibly be considered. If the parents do not wish that, that is just as well."  

During the follow-up interview at the genetics center, the way carriers of a breast cancer gene are followed up is also explained. "One can opt for regular, usually six-monthly, check-ups or for a bilateral mastectomy, in which both breasts are preventively removed. Some women start with follow-up checkups and still desire a bilateral mastectomy after a few years."  

Unlike breast cancer patients, carriers have time to think about what they want and inform themselves well beforehand. If they opt for preventive amputation of both breasts, new breasts can often be reconstructed in the same surgery.

When a breast cancer gene is discovered in genetic testing, it is important to also identify other potential carriers in the same family. How do you approach that? "From the genetic center, we are not allowed to contact them," says Nathalie Saen, "Genetic information is legally protected in Belgium. By the way: insurance companies are never allowed to ask you if you are a carrier of a cancer gene, but in practice it does happen. You don't have to answer such questions." So, the initiative to inform the family lies with the carrier himself. But, how do you tell your sisters, brothers, mother,...? What if you no longer have contact with that one sister or brother? "Our psychologist has tips on how to have that conversation. If you're really not comfortable doing that, we provide a neutral letter that carriers can deliver to their family members." Sometimes people are left in limbo.

Suppose you are a carrier and have children of your own. What then? "Children are not allowed to be genetically tested for cancer genes. They must be at least 18. The reason is that everyone should be able to decide for themselves whether they want the test or not. Moreover, at childhood age you are not at risk of developing breast cancer already, even if you are a carrier. Those concerned can always visit a genetic center for information and advice. They don't have to get tested right away."

Genetic cancer testing is sometimes done into old age, even in people over 80 who do not have cancer. "In that case, the test helps to create a family tree and know from which branch of the family the cancer gene was passed on. And of course for the affected person himself. The family tree that maps the inheritance of the cancer gene goes quite far. Nieces, nephews, aunts and uncles are all involved. We start as high up the family tree as possible, with the elders, to test as efficiently as possible."

Follow-up schedules for carriers of a cancer gene are always customized. "The existing schedules are a guideline," Nathalie Saen clarifies, "If your breasts are very dense, for example, your doctor may decide that it is better to have an MRI scan than a mammogram to detect a possible cancer in time. We advise carriers to be followed up in a recognized breast clinic, because that's where all the equipment and know-how is available." In the case of BRCA1, you are also at greater risk of ovarian cancer. To avoid that, you really only have one option: have both ovaries removed. "This does not always have to be done at a young age; this cancer more often occurs later, giving you time to fulfill your desire to have children. Sometimes you can even wait until menopause."

Male carriers do not have to follow a follow-up schedule, because the risk of breast cancer remains low for both BRCA1 and BRCA2. "We inform them well, so that they remain alert for the alarm signs for breast cancer." If there is an increased risk of prostate cancer, regular PSA measurements and clinical examinations of the prostate can be performed. A PSA test can detect prostate cancer early. For this, a blood test is sufficient.

The relief must be great when the genetic testing reveals that you are not a carrier or carrier of a breast cancer gene. Yet even then you are invited for a follow-up interview. Why? "A conversation is necessary. Guilt is very common, when one sister carries the gene and the other does not, for example. Not carrying the gene will usually be a relief, but it rarely makes you happy. If loved ones in your family do carry and develop cancer, that's bad news for you, too. The sadness is usually greater than the relief."

Belgium has eight approved genetic centers, four Dutch-speaking and four French-speaking. The addresses can be found here