My Father's Fight Against the Breast-Cancer Gene
For The Wall Street Journal, Sept. 28, 2018 10:53 a.m. ET
My grandmother and I both survived the disease, and knowing our genetic legacy turned out to be crucial in saving him
I was 7 years old when my dad’s mom, Gertrud, was diagnosed with breast cancer. It was 1971, and she had just turned 65. Grandma lived in Berlin and would usually spend summers with us in Switzerland. The summer of her diagnosis was no different. One day during her visit she was getting dressed and felt a tiny, hard lump in her breast. If she was worried or even panicked, we never knew. She abruptly cut short her visit to take care of “a problem that needed attention.”
And that was it. For years, we remained unaware of her disease. After living for another two decades—having survived breast cancer—she died of pancreatic cancer when I was in my last year of medical school.
In April 2012, as I prepared to undergo a double mastectomy, it was Gertrud’s face that flashed before me. I’d just endured weeks of worry, testing and decisions following an unlikely breast cancer diagnosis at the age of 48. Despite my years as a practicing oncologist—specializing in breast cancer, of all things—I was not prepared for it to come to me.
That morning, as I waited in the pre-op area in a hospital gown, I thought of how alone she must have felt, for here I was, surrounded by friends and family, including my father, who had arrived from Switzerland. The nurse came in and told me that they were ready. The anesthesiologist started injecting a sedative. I looked up and, for the first time in my life, saw tears in the steel-blue eyes of my father. Papa stepped up to my gurney and hugged me gently. “This is just not right,” he said, “this should be me, not you! You should not have to go through this at your age!”
Norbert Munster by his garden workshop in Sargans, Switzerland
Photo Credit: Clara Tuma for The Wall Street Journal
Those words of my father are the last thing I remembered as I went into surgery. I would think back on them often in the years ahead, as we dealt with his own genetic legacy of cancer and its relationship to what Gertrud and I had gone through.
By the following summer, I was back in control—past the diagnosis and multiple surgeries. In November 2012, we had discovered that I carried the BRCA2 gene, one of the two hereditary cancer genes named BRCA because they indicate a very high risk for breast cancer. In 2012, only women from high-risk families, with multiple members diagnosed under the age of 50, were getting tested for BRCA mutations. The test then cost several thousand dollars (it now costs as little $100 and can be obtained easily).
More tests confirmed that my mutation came from my father’s side, at last putting into perspective the two different cancers of his mother—and, likely, the early death of his own grandmother at 29.
BRCA mutations leave women with about a 70% chance of breast cancer and up to a 40% chance of ovarian cancer. Many female carriers will ultimately choose to have their breasts and ovaries removed by their mid-forties. What is less well known is that BRCA mutations do not spare men, increasing their risk, even at a young age, for breast, prostate and pancreatic cancer.
‘ Before I knew it, our roles had reversed—instead of me in the patient’s seat, I would be his protector and advocate. ’
Life had barely returned to normal when, during one of our weekly calls, my father mentioned that he was having a bit of stomach trouble. Healthy all his life and with no reason to worry about what seemed to be indigestion, he did not think much of it. My father was then 78, and in men his age, digestive problems are common. But I did not think of ulcers or constipation. My mind went directly to pancreatic cancer.
Pancreatic cancer is much feared for very good reason. It is one of the deadliest cancers we know, partly because it is rarely detected early. About 55,000 men and women present each year with pancreatic cancer in the U.S., and 44,000 die from it. Only about 5,000 of these cases are discovered at an early enough stage that surgery is still an option and a chance for a cure, but even among those, barely 1 in 3 will survive five years beyond diagnosis.
For someone with a BRCA2 mutation, the risk for pancreatic cancer is up to 10 times higher than for those without the mutation. Pancreatic cancer is the third most common cancer with BRCA mutations for both men and women, and many women with BRCA2-related pancreatic cancer already have had breast cancer.
Knowing that Papa was a BRCA2 carrier drastically raised my concern that this could be pancreatic cancer, but in 2013, at the time of his diagnosis, there were no recommendations to regularly screen someone with a BRCA2 mutation for pancreatic cancer. My own circumstances and my knowledge of the mutation were undoubtedly part of what saved him.
An exhaustive battery of tests confirmed my suspicion, and despite his acting on his first symptoms and taking immediate action, his pancreatic cancer was already advanced.
Before I knew it I was in Switzerland, and our roles had reversed—instead of me in the patient’s seat, I would be his protector and advocate as I accompanied him to his doctor’s visits. Dr. Bruno Schmied, a seasoned pancreatic surgeon in the city of St. Gallen, explained to us with compassion and finality that surgery wasn’t an option. Both my father’s age and the advanced nature of the tumor made it a very dangerous, and likely futile, endeavor.
‘ “The odds are against you,” I said. “But knowing you, I think you would rather go down in flames than not try at all.” ’
I asked Dr. Schmied whether he would reconsider surgery if we got Papa’s tumor to shrink. I pointed out the special circumstances of the BRCA mutation and my father’s supreme fitness; he biked 20 miles on most days and hiked up the Swiss mountains on others. Surely he was strong enough!
As Dr. Schmied paused, I could tell that he was trying to decide if he should direct his answer to the daughter of his Swiss patient or the American cancer expert. After a long pause, he said that such an effect on the tumor was highly unlikely…but in principle, yes, if I could make it happen, he would reconsider. He wished us all the best and left the room.
My father beamed in amazement, “Boy, you really are somebody.”
The next morning, I woke up to a stunning Swiss summer day. Papa and his second wife, Marietta, sat in the garden, surrounded by birds humming and deeply colored summer flowers. Grabbing a cup of coffee, I joined them. It was time to make a decision.
For most patients, pancreatic cancer progresses very fast. Almost all rapidly lose weight—starved by the cancer. We also knew that in my father’s case, a rigorous chemotherapy regimen could make the end of his life miserable. And yet, motivated by my own research on finding new treatments for patients with advanced cancer, I held on to the possibility of pulling him through this ordeal.
“Is there really hope? A way to shrink this tumor so I can go through surgery?” my father asked, his eyes searching mine for expertise and reassurance.
“Yes,” I said, “but it comes at a price; and at the risk that despite very aggressive chemotherapy, the tumor could continue to grow regardless and you may not tolerate the treatment.”
“What will be my alternative?” he asked.
“You can hope that your tumor grows slowly, and that you have some meaningful time before the tumor invades other organs and creates serious problems.”
He then asked me an even more difficult question: “Do you think this will work?”
My father has been my stronghold all my life—tough and driven, rarely letting obstacles stand in his way. Ever since I was a little girl, he instilled in me determination and grit. I could not really see him give up that easily, nor would I want him to. I held out my hand.
“The odds are against you,” I said, “but knowing you, I think you would rather go down in flames than not try at all.” I then added words that he had often repeated in my youth: “You can do anything you set your mind to.” A smile broke through the tension in his face. We were off on a new journey together, bound by our shared cancer ordeals.
A week later, he received the first dose of a combination of aggressive chemo treatments that Dr. Stefan Greuter, the oncologist in Switzerland, had agreed to—only because Papa had a BRCA mutation (and an extremely persuasive, medically trained daughter). I still remember how nauseated I felt watching one of the most toxic chemotherapy regimens available flow into the veins of someone I loved so dearly. While I prayed that it would work, I also pledged that we would come up with better treatments to treat this disease.
Aware of the odds, I was merely hoping for a response—any response—so I was quite unprepared for the drastic change in my father’s tumor. I was back at work again in San Francisco when I received an excited phone call from Dr. Greuter: After eight weeks of chemotherapy, the tumor was less than half its original size.
‘ The same defect that makes people with BRCA mutations more likely to have cancer is also the Achilles’ heel of the tumors. ’
Ten weeks after starting treatment, we returned to the surgeon, Dr. Schmied, who clearly had not expected to see us back in his office. He was even more surprised when he saw my father’s response to the chemotherapy.
“It’s his BRCA mutation,” I said. “These tumors are much more sensitive to chemotherapy.”
The surgeon looked at me inquisitively. “Why is that?”
As I told him, the same defect that makes people with BRCA mutations more likely to have cancer is also the Achilles’ heel of the tumors. Cancer cells often escape the effects of chemotherapy by efficiently repairing the damage it inflicts on them. Cancer cells with mutated BRCA genes cannot repair DNA damage and thus are particularly vulnerable to chemotherapy agents that cause DNA damage.
He looked again in amazement at the scans and then at my dad. The relationship between BRCA2 and pancreatic cancer and the excellent response some patients can have to therapy was much less understood then. But I could see in his face a kind of conversion—a battle won not only for my dad but for many other patients who will benefit from more awareness of these links. My father underwent surgery, and his tumor was removed.
But his journey did not end there. Within two years, the pancreatic cancer was back, requiring further chemotherapy and then two courses of radiation therapy. Thankfully, each course of treatment brought his tumor back under control, without more surgery, and he has now marked the five-year anniversary since his diagnosis.
Still, my father’s story is not the story of most pancreatic cancer patients. Having someone well versed in the latest cancer research at his side was a huge benefit; he was lucky that his BRCA mutation was recognized and that he had access to quality care.
We must hope that, in the years ahead, more of the public and the medical profession will become aware of the link between BRCA mutations and pancreatic and prostate cancer. Many more patients could also benefit from the sort of research and treatment that helped to save my father. Indeed, since his diagnosis, an entirely new type of therapy has been developed and approved, called PARP inhibitors, which are specifically tailored for those with BRCA mutations.
I am lucky to have had many more years with my father since his diagnosis, and this gift has confirmed my belief that there is always hope for something new to alter our fates in dealing with cancer. But I could not end his story without reflecting on what he did to make this happen, a lesson in what each of us can do to anticipate and fight cancer, with or without genetic predisposition.
Papa was seventy-eight when diagnosed. Until then, he had exercised almost every day of his life and eaten a balanced diet. These habits may not have prevented his tumors from growing, or occurring in the first place, but they clearly helped him to survive the blows of treatment.
A friend once told me that to win the race you have to stay in the race. Dealing with metastatic cancer is an ongoing battle. It requires steadfast support, resources, stamina and, most of all, courage and hope. There are endless setbacks and bad days. But seeing my father emerge from his struggle, my own blue eyes meeting his, I am proud. We are now connected by more than blood and DNA.
As an oncologist specializing in breast cancer, Pamela Munster was unprepared for the disease to come to her—but knew how to guide doctors to help her father.
Photo Credit: Elizabeth Fall
This essay is adapted from Dr. Munster’s new book, “Twisting Fate: My Journey with BRCA—From Breast Cancer Doctor to Patient, and Back,” published by The Experiment. She is a professor of medicine at the University of California, San Francisco.
Note: This article was originally published in the Wall Street Journal in 2018. Every day we are faced with the reality that cancer remains an often incurable illness. Mr. Munster passed in May of 2019 after surviving six years. He continues to be an inspiration as Dr. Munster and her team works to develop new and improved treatments.