Beyond BRCA: Testing negative and living in the 'gray zone' for cancer risk
This is Stacey’s story of searching for a genetic explanation for the prevalence of breast cancer in her family.
Genetic Counseling Note: When a patient tests ‘negative’ for genetic mutations, part of the genetic counseling process is to interpret what that result means in light of the patient’s personal and family history. In some cases it could mean that 1) there is still a likely genetic explanation for the cancers in the family – but the current testing hasn’t found it or 2) the cancers in the family are unlikely to be hereditary. The differences in these possible interpretations can make a significant impact on the recommendations for how that patient and their entire family are followed. However, complexities in personal and family histories can often make this classification challenging.
Tell us about you
I’m a lifelong runner, cyclist, organic gardener and extrovert, who enjoys meeting people and loves to connect dots: whether individuals to individuals, or individuals to pieces of information. I am a mom of two and a horrible housekeeper.
Your medical journey
In January of 2013 my mother was diagnosed with invasive breast cancer at age 63 – this was the first cancer that I knew about in someone close to me in our family tree. I took a leave of absence from my job in California and flew back and forth to Texas to help her navigate her medical options. She is a strong, vocal person and yet I watched her take things as they were directed — she didn’t feel empowered to make other choices. I started researching on her behalf and went online with ‘Drs. Google and Twitter’. I learned about the Twitter group #bcsm (breast cancer social media) and lurked on their streams, absorbing knowledge. Four months after her diagnosis, and shortly after my 40th birthday, I had my first mammogram. I was diagnosed with breast cancer, which ended up being three separate cancers in my left breast (both invasive and non-invasive).
How did you end up having genetic testing?
Based on my personal and family history of breast cancer (I later learned that my mom’s maternal aunt was also diagnosed with breast cancer in her fifties or sixties, meaning that we had breast cancer in three generations), I was offered genetic testing for BRCA1 and BRCA2 and tested negative in August 2013. Almost two years later I was offered a multi-gene panel of testing through Ambry and no mutations were found.
Tell us about receiving your test results
Originally when I tested negative for mutations in BRCA1 and BRCA2, I was relieved. I was most relieved that I didn’t pass either on to my children and also grateful to learn I did not have an increased risk for additional cancers. As I learned more about the field and learned there were other genes that could also increase my risk for cancer, I chose to be re-tested with a gene panel. When those results came back negative for mutations, I felt like I still didn’t have an answer. I experienced an odd combination of relief and confusion – then why did I get breast cancer? I breast fed both kids, I’m a religious exerciser and I’ve taken good care of myself — why did I get breast cancer? I still don’t know why. There is a concern in the back of my mind that there probably is a hereditary component based on my personal and family history. Ultimately I am relieved that I don’t carry a mutation, but that doesn’t mean it’s over.
What are the misconceptions about you testing negative?
“Oh good, she is safe. Her cancer is done.” When a woman tests positive for a BRCA mutation, it is understood that her personal risk is elevated and she may be diagnosed with another cancer. But there is a general lack of health literacy, which I call ‘oncoliteracy’. Many people don’t understand that just because you don’t have a known genetic mutation it doesn’t mean that you are no longer at risk. This applies to both my health care providers and the general public. I know the onus is on me to stay up to date on what this means for me now, and in the future.
How about in terms of support?
I have a tremendous amount of support – both on and offline.
Occasionally I wish that there were the same types of groups and organizations that there are for people who carry a BRCA mutation for those of us who are in the ‘gray zone’, or uninformative. We are lacking this central location and cohesiveness. People tend to link to each other based on homogeneity. We don’t have that.
What you’ve learned
Being your own advocate is critically important, but I realize that not everyone feels comfortable using her outside voice in the medical setting — sometimes it’s about finding someone who can advocate for you.