The possibility of carrying the BRCA gene mutation can be concerning to women who've been diagnosed with cancer especially when their children may eventually be affected.
The phone rang. It was my youngest daughter. We talk several times a day. She usually calls on her way to work, at lunch and on her way home. But this call was different. I could hear trepidation in her voice.
“Mom, I went to the doctor today. She found a lump in my breast.” I struggled to hold the phone and continued to listen. She told me not to get worried, it was probably nothing, but I could tell she was just trying to be brave. My little girl was scared and so was I. I didn’t know how to feel. As we ended the phone call, so many things were running through my mind. Was breast cancer going to be part of our lives again?
When I was first diagnosed with breast cancer, my oncologist asked me about my medical history. He wanted to know if anyone in my family had been diagnosed with breast cancer, particularly my mother or grandmother. Thankfully, I was able to tell him none of my immediate family members had suffered from breast cancer. When I asked why he wanted to know, he explained if there was a history of breast cancer, I’d need to be tested for the BRCA gene. Since there was no history of breast cancer in my family, I was told I didn’t need the test.
According to an article posted by Cancer.gov, “BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cell’s genetic material. When either of these genes is mutated, or altered, such that its protein product either is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer.
Specific inherited mutations in BRCA1 and BRCA2 increase the risk of female breast and ovarian cancers, and they have been associated with increased risks of several additional types of cancer.
Together, BRCA1 and BRCA2 mutations account for about 20 to 25 percent of hereditary breast cancers and about 5 to 10 percent of all breast cancers. In addition, mutations in BRCA1 and BRCA2 account for around 15 percent of ovarian cancers overall. Breast and ovarian cancers associated with BRCA1 and BRCA2 mutations tend to develop at younger ages than their nonhereditary counterparts.
A harmful BRCA1 or BRCA2 mutation can be inherited from a person’s mother or father. Each child of a parent who carries a mutation in one of these genes has a 50 percent chance of inheriting the mutation. The effects of mutations in BRCA1 and BRCA2 are seen even when a person’s second copy of the gene is normal.”
In our conversation, my daughter had mentioned, while receiving her examination, she’d been asked if there was a history of breast cancer in her family. She’d told the doctor about my recent breast cancer diagnosis. The doctor immediately told my daughter she needed to speak with me and encourage me to ask my oncologist to perform a BRCA gene test. I felt distraught and wondered why the oncologist hadn’t performed the BRCA test on me at the time of diagnosis. Even without a family history of breast cancer, I’d mentioned the fact that I had three daughters. I had been concerned about the possibility of one of them being diagnosed with breast cancer at some point in their lives but even more so after I was diagnosed. Now it was imperative I be tested.
Later in the day, I received another call from my daughter. As we began to talk, I couldn’t hold back the tears. I apologized to her for not having been tested beforehand. She assured me it wasn’t my fault and even if I’d been tested, I might not have carried the gene.
A plethora of emotions consumed me. I was concerned my 29-year-old daughter needed a diagnostic mammogram. I was fearful of the outcome and hoped she wouldn’t receive a breast cancer diagnosis. I was angry at myself for not demanding a BRCA test at the onset of my disease although I didn't really know much about it at the time. I didn’t want my sweet child to endure any of the trauma related to breast cancer and I prayed she would receive a good report.
I did some research to find out more about the BRCA gene mutation. I found an informative article that said, “A woman’s lifetime risk of developing breast and/or ovarian cancer is greatly increased if she inherits a harmful mutation in BRCA1 or BRCA2. About 12 percent of women in the general population will develop breast cancer sometime during their lives. By contrast, according to the most recent estimates, 55 to 65 percent of women who inherit a harmful BRCA1 mutation and around 45 percent of women who inherit a harmful BRCA2 mutation will develop breast cancer by age 70 years. Because harmful BRCA1 and BRCA2 gene mutations are relatively rare in the general population, most experts agree that mutation testing of individuals who do not have cancer should be performed only when the person’s individual or family history suggests the possible presence of a harmful mutation in BRCA1 or BRCA2.
When an individual has a family history that is suggestive of the presence of a BRCA1 or BRCA2 mutation, it may be most informative to first test a family member who has cancer if that person is still alive and willing to be tested. If that person is found to have a harmful BRCA1 or BRCA2 mutation, then other family members may want to consider genetic counseling to learn more about their potential risks and whether genetic testing for mutations in BRCA1 and BRCA2 might be appropriate for them.”
In light of this information, I feel it imperative I be tested for the BRCA gene mutation as quickly as possible. The outcome of the test will either be positive, negative, or uncertain. A positive test result would indicate I do carry a mutation in the BRCA1 or BRCA2 gene and therefore could pass on an increased risk of developing cancer to my children. But, even with a positive test result, there is no way to tell whether or not someone will indeed develop cancer.
“A negative test result, according to the article by Cancer.gov, can be more difficult to understand than a positive result because what the result means depends in part on an individual’s family history of cancer and whether a BRCA1 or BRCA2 mutation has been identified in a blood relative. If a close (first- or second-degree) relative of the tested person is known to carry a harmful BRCA1 or BRCA2 mutation, a negative test result is clear: it means that person does not carry the harmful mutation that is responsible for the familial cancer, and thus cannot pass it on to their children. Such a test result is called a true negative. A person with such a test result is currently thought to have the same risk of cancer as someone in the general population. If the tested person has a family history that suggests the possibility of having a harmful mutation in BRCA1 or BRCA2 but complete gene testing identifies no such mutation in the family, a negative result is less clear. The likelihood that genetic testing will miss a known harmful BRCA1 or BRCA2 mutation is very low, but it could happen. Moreover, scientists continue to discover new BRCA1 and BRCA2 mutations and have not yet identified all potentially harmful ones. Therefore, it is possible that a person in this scenario with a "negative" test result actually has an as-yet unknown harmful BRCA1 or BRCA2 mutation that has not been identified. It is also possible for people to have a mutation in a gene other than BRCA1 or BRCA2 that increases their cancer risk but is not detectable by the test used. People considering genetic testing for BRCA1 and BRCA2mutations may want to discuss these potential uncertainties with a genetic counselor before undergoing testing. Sometimes, a genetic test finds a change in BRCA1 or BRCA2 that has not been previously associated with cancer. This type of test result may be described as “ambiguous” (often referred to as “a genetic variant of uncertain significance”) because it isn’t known whether this specific gene change affects a person’s risk of developing cancer.”
It’s heart-wrenching to think my daughter may have breast cancer and while we await the results of her tests, we’re holding on to hope. Although I knew when I was diagnosed there could be the possibility of one of my girls receiving a breast cancer diagnosis, I never dreamed we’d be facing that possibility so soon. It doesn’t seem quite fair. One diagnosis per family is more than enough, two would seem very cruel.