In 2005, there were an estimated 1,600 women under 40 who were diagnosed with in situ (non-invasive) breast cancer in this country*. I’m one of them.
When the surgeon first said “it’s cancer” on that chilly, overcast morning in March two and a half years ago, there were lots of thoughts careening around in my head. One of them was “well, of course it’s cancer.”
To tell you the truth, I’d been expecting for years to hear I had breast cancer. I’m the fourth generation in my family to have breast cancer. It’s a straight line, mother to daughter. My great-grandmother, my grandmother, my mother, and now me. My mother had breast cancer in 1994, just after I graduated from college. My grandmother had breast cancer twice, in the 1960s and in the early 1970s; she did not beat it the second time. My great-grandmother had breast cancer, as far as anyone can remember, sometime in the late 1930s or early 1940s, and it killed her soon after diagnosis.
The genetic counselor I spoke to two days after Diagnosis Day took a rough family medical history from me, paused for a moment, and said, “I think it’s fairly safe to say that you have a very strong chance of having one of the breast cancer gene mutations.” Later that week, he met me at my new oncologist’s, drew some blood, and said he’d have results in about 4-6 weeks. I wasn’t nervous about getting the results back, I knew in my heart that I had one of the gene mutations, but I’d done the test for my sister, for my sons, for my aunts and cousins, for future grandchildren, nieces and nephews. And I knew I’d have a bilateral (double) mastectomy regardless. Although the cancer had only been found in one breast, I felt confident (and my husband supported this) that I would prefer to have the other breast removed as well, to reduce the risk of having the cancer return in two or twenty-two years. And, let’s be completely frank here, I also thought, a little bit, “ooh, maybe they can build me Carmen Electra’s breasts!”
About 5% to 10% of breast cancer cases are thought to be hereditary. Women with an inherited BRCA1 or BRCA2 mutation (the most common breast cancer genetic mutation) have up to an 80% chance of developing breast cancer during their lifetime, and when they do it is often at a younger age than in women who are not born with one of these gene mutations. Women with these inherited mutations also have an increased risk for developing ovarian cancer. According to Facing Our Risk, a website for BRCA1 and BRCA2 carriers, one in every 300 to 500 people are estimated to carry a BRCA mutation.
To cut to the chase, I am what is called BRCA1+. I did inherit one of the breast cancer genetic mutations from my mother, grandmother, and great-grandmother. As it turns out, my mother’s younger sister is also BRCA1+, and my younger sister is preparing to meet with her genetic counselor for testing in the next few weeks. My cousins (only those on my mother’s side), both male and female, will decide for themselves if they want to know their genetic status and have the testing done. My sons have a 50/50 chance of also being BRCA1+, but will not be allowed to undergo testing until they are 18.
The tricky thing about genetic testing (at least with regard to BRCA) is that a negative result is not necessarily a Final Answer. While science only has discovered/defined two breast cancer-related genetic mutations, there could be dozens more yet undiscovered. Being negative for BRCA1 and BRCA2 does not mean a test subject does not carry a genetic mutation, but simply that they do not carry one of the two known genetic mutations. As a result, many relatives of breast cancer patients opt to not undergo testing, figuring it would not really tell them anything concrete about their cancer risks.
Although I went into genetic testing thinking I didn’t need to know the results for me, I am glad I did it. As a BRCA1+ cancer survivor, my oncologists strongly recommended that I also have my ovaries removed, to prevent ovarian cancer. While the chemotherapy I’d done following my mastectomy had put me into what is called “chemopause” (chemotherapy-induced menopause), I still had reservations about voluntarily giving up any chances to have more children (our twin boys were born eight months and one day before my breast cancer diagnosis). In the end, though, I chose to have the surgeries so that I can stick around with my family, see the boys grow up, and eventually, one day, dance at their grandchildrens’ weddings. You’ll know me: I’ll be the great-grandmother with the Carmen Electra rack.
* according to the American Cancer Society’s Surveillance Research, 2005
Phen
Great post, Phen. I actually jumped ahead and went to a genetic counselor before any diagnosis since there is a strong history but opted to not do the testing. First, there’s no way the only surviving person with breast cancer would take the test (which I was told was the best indicator). Second, without having it, I’m afraid what it would mean for insurance (there’s nothing really saying they can discriminate based on the findings, but there’s nothing written in stone yet saying they can’t). We also don’t plan on having children and I’m an only child. It also isn’t, as you state above, a definite indicator if you test negative.
In my situation it didn’t make sense, in yours it definitely did. I opted to go to the Duke Breast Health clinic where we have all the best early detection techniques, many of which won’t be covered by insurance. Maybe one day I’ll do the testing, if and when it makes sense and when the laws keep up with the science.