There was never a question in my mind that I had a genetic predisposition for breast cancer. Having come from a gene pool where every woman on my maternal side had the disease, I knew the likelihood of developing breast cancer was high. In my early twenties, doctors offered me genetic screening to see if I was a carrier of the BRCA1 or BRCA2 mutations, which sharply increase the risk of developing breast cancer for those who carry it. I was faced with the decision to get tested and confirm what I thought would be a positive test, or forgo testing and continue my routine breast cancer screenings with the assumption I was positive. I decided against being tested and continued my regular mammography screenings. It wasn't until I was diagnosed with breast cancer last fall at 30 years of age that I was tested for the BRCA1 and BRCA2 mutations. The results were more shocking to me than my actual breast cancer diagnosis: I do not carry the BRCA1 or BRCA2 mutations.
The results yielded more questions than answers for me. How could I test negative when there is such a strong family history of the disease? How did I get breast cancer at a younger age than any of the women in my family? What exactly was the BRCA gene and why did these four letters make such a difference in how we look at the risk for breast cancer?
Simply put, BRCA1 and BRCA2 genes produce proteins that repair DNA cells when they become damaged. According to the National Cancer Institute, when there is a mutation in these genes, the protein may not be made or may not function correctly, and damaged cells may not be repaired. As a result, cells are more likely to develop alterations that can lead to cancer. I should have been relieved to know that I didn't carry the gene mutation, but if it wasn't a BRCA mutation, what caused the women in my family to have a higher risk of breast cancer?
Interestingly, mutations in the BRCA1 and BRCA2 genes account for only about one quarter of hereditary breast cancers. Mutations in other genes, including CDH1, STK11 and TP53 have been found to increase the risk in developing breast cancer. These mutated genes differ from BRCA1 and BRCA2 because they cause syndromes that greatly increase the chance of developing cancer over a person's lifetime. Scientists have also found that inherited mutations in the ATM, BARD1, BRIP1, CHEK2, NBN, PALB2, RAD50 and RAD51 genes may also be associated with a higher risk of breast cancer, and they are constantly learning more about how genetics affect predispositions to the disease.
Having an understanding of the basic genetics behind the test so many gynecologists and breast specialists encourage, it is understandable why thousands of women undergo BRCA testing every year. It is very important to know your risk and protect yourself accordingly. However, for the at-risk women with family histories of breast cancer who test BRCA negative, the false sense of relief these negative tests provide is extraordinarily troublesome in light of the fact that 75% of hereditary breast cancers are not related to the BRCA1 and BRCA2 mutations. For me, the most concerning thought was whether I would have been as vigilant in my screening had I received the BRCA negative test results prior to my breast cancer diagnosis.
In my early twenties, when doctors first suggested I get tested for the BRCA1 and BRCA2 mutations, they explained that if I tested negative, I wouldn't have to begin regular mammograms until the age of 35. My mother and aunt were diagnosed with breast cancer before the age of 35. The idea of doing nothing to screen myself besides self-exams for nearly a decade left me feeling very exposed and unprotected. I wrestled with the decision to be tested for quite some time, and ultimately decided that regardless of the test results, I had to do more to protect myself and stay aware of my risk of developing breast cancer. I chose not to be BRCA tested and continued to be vigilant with regular screenings, appointments with my breast specialist and self-exams. In hindsight, I made the right decision.
A large majority of health care professionals recommend breast cancer screening to begin between the ages of 30-35 for women with a first degree relative with a history of breast cancer. For those without a family history, advocates set the base age for screening at 40, and some say even 50 years old for a first mammogram. I strongly disagree. Had I tested BRCA negative prior to my diagnosis at age 30, and had I waited to screen for breast cancer at the recommended 35, 40 or even 50 year mark, I may have been a statistic. But I refuse to be a statistic. Instead, I'm an advocate, and I encourage every at-risk woman to take her health into her own hands and become her own best ally.
Women simply cannot rest on the results of one test, particularly if they have a family history of the disease. Knowing the risk or acknowledging a family history of the disease is half the battle. The first thing a young at-risk woman can begin to do is begin self-breast exams in her teens and early twenties. Resources like the American Cancer Society provide step-by-step instructions on how to conduct a self-breast exam. If there are any changes or abnormalities when conducting regular self-breast exams, these differences may be noticeable and can be addressed as soon as detected.
It is also important for women to have a candid discussion with their health care professionals with regard to genetic testing, their screening regimen and what they can do to protect themselves. Knowledge is power. Understanding risks, family history and genetic predispositions to breast cancer, in addition to knowing the options available for early detection and prevention, will help guide the decisions for proper vigilance.
For me, regular screenings beginning at the age of 25 and awareness of my increased risks enabled me to detect my breast cancer at the earliest possible stage. I didn't dodge a bullet because I was BRCA negative. It was knowing my risks and being vigilant that saved me from the spread of breast cancer, saved me from extensive treatments and saved my life.