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My Risk Revealed: A Confirmed BRCA2 Mutation

— My dad's cancer diagnosis offered me invaluable information

MedpageToday
A photo of Shoshana Ungerleider, MD

Cancer is a part of my family story. My grandmother on my father's side died of pancreatic adenocarcinoma in her early 70s, when I was a young teenager. My grandfather and uncle died of esophageal cancer in their early 50s. So, when I got a phone call from my father telling me he had "some bad news," my heart sank. "They found a mass in my pancreas." I immediately knew this was indeed terrible news. The median survival for pancreatic cancer, which I strongly suspected he had, is just months.

But during our first visit with the oncologist, we learned something that truly shocked me. While my suspicions were confirmed and we found out that my father had stage IV disease, which had spread to his liver, we also learned that some late-stage patients with pancreatic cancer were surviving 3, 5, or even 10 years, far outliving the typical grim prognosis by using poly (ADP-ribose) polymerase (PARP) inhibitors as maintenance treatment, or with immunotherapy in select cases. The oncologist recommended genetic testing of his tumor and germline testing of his blood for genetic mutations. He told us that if we found a BRCA mutation (affecting in the general population), this would be a "good thing" for my dad because it meant he'd be eligible for this treatment, which was buying some patients years of life, with good quality of life.

Named BRCA (for "BReast CAncer"), these tumor suppressor genes prevent uncontrolled cell growth and abnormal cells from becoming cancerous. Humans have two copies of the BRCA1 and BRCA2 genes. If there is a mutation in one of the BRCA genes, the resulting proteins may not carry out their function in DNA repair as well, causing a predisposition to cancer. A faulty BRCA gene was once thought to be rare, but it's not so rare among certain populations: it's found in one out of 40 Ashkenazi Jews, my family heritage.

As a doctor, I knew about BRCA, but since none of the cancer in my family was breast or ovarian, I felt safe. However, when the oncologist said that my father's pancreatic cancer could be associated with BRCA, I felt a cold chill. Suddenly, the fact that my family's cancer history might indeed impact my own future felt uncomfortably close and clear.

It turns out that my father does have the BRCA gene mutation, which gives us all a strong ray of hope that we might be together for many more good years. But, it also turns out that if you have a BRCA mutation, you have a of passing the mutation to each of your children. So, almost immediately, I met with a genetic counselor and was tested. She told me something that surprised me: anyone with Ashkenazi ancestry should seek genetic counseling as they will likely qualify for genetic testing, too.

I waited 3 weeks, feeling pretty certain that I would be in the clear. So, when the results came back positive for BRCA2, I was surprised. If I wasn't a physician, I may have been more upset by the news, but I know there are evidence-based options for how to proceed, from preventative surgery to regular surveillance, to lower my lifetime risk of developing cancer. As strange as this sounds, knowing I have a BRCA mutation actually makes me feel empowered and I am grateful. With my strong family history of cancer, I always assumed I would get cancer too. Now, I'm not just waiting for bad news: I know my risk and can decide what I want to do with this information, rather than just hoping to be lucky.

We now know that BRCA mutations -- associated with an elevated lifetime risk of ovarian and breast cancer -- also of many other cancers. There's also a biased belief that men don't need to be tested since the cancer risk is lower, but my family illustrates why this is a misconception. And sometimes, a family history can be confusing, because not everyone with BRCA mutations develop cancer, so it can appear to "skip generations," especially when inherited from the paternal side.

I want clinicians, and the public in general, to know that BRCA is not just found in families with breast and ovarian cancer. Far too many physicians don't know that pancreatic, prostate, melanoma, as well as some other forms of cancer are associated with this genetic mutation. I didn't, and neither did my doctor. Whether you're a primary care physician like me or a specialist, it is critical to do a thorough family history with our patients and stay up-to-date on the newest guidelines about when to refer to genetic counseling and screening. It will save lives. The silver lining in my dad's terminal disease is that he very well may be saving my life.

Being a daughter means something different from being a doctor. I want nothing more than to go home and spend as much time with my father as possible. And I've found it nearly impossible to take off the medical hat and only support him as a loving daughter -- but maybe that's OK. In addition to being a daughter and a doctor, my role in the family is further influenced by the fact that I'm a national advocate for improving the end-of-life experience. So, amidst all the emotions, I also know how important it is for us to stay grounded in the reality of the questions and decisions that come up when a life-defining diagnosis is received.

Following his diagnosis, we started talking about my father's will and advance directive and the specifics around the care he wants and does not want at the end of his life. For him, it means receiving treatment for as long as he has a good quality of life, alongside palliative care. And at the same time, trying to navigate the uncertain future that cancer can bring. Right now, we are focused on allowing him to live as well as possible for however long that may be. Will he be alive to celebrate the holidays with us this year? Will he be able to vote in the next presidential election? We hope so. And when the time comes, just like all of my patients, I want my father's end-of-life experience to honor his life and the things he values.

I share this personal story in hopes that my family's experience may be able to help the nearly who have BRCA mutations, of whom don't know it. However, I am one of the few who know I carry this mutation. As far as what it feels like to know? I feel empowered now to make choices that align with my own goals and values for living, what I hope will be, a long and very full life.

is an internal medicine physician at Crossover Health in San Francisco, host of TED Health, and the founder of . All views expressed in this article are the author's own.