My father's fight against the breast cancer gene

And that was it. For years, we remained unaware of his illness. After living two more decades, having survived breast cancer, she died of pancreatic cancer while I was in the final year of medical school.

In April 2012, as I was preparing for a double mastectomy, Gertrud's face appeared in front of me. I had just been through weeks of worry, testing, and decisions following an unlikely diagnosis of breast cancer at the age of 48. Despite my years of oncology, specializing in breast cancer, I was not ready to do it. me.

That morning, while I was waiting in the preoperative area of ​​a hospital gown, I thought how she should feel lonely as I was surrounded by Friends and family members, including my father, arrived from Switzerland. The nurse came in and told me that they were ready. The anesthetist started to inject a sedative. I looked up and, for the first time in my life, I saw tears in my father's steel blue eyes. Dad approached my room and hugged me gently. "It's not fair," he said, "it should be me, not you! You should not have to go through that at your age!

These words of my father are the last thing I remembered when I entered surgery. I often thought of them in the years to come, because we were dealing with his own genetic inheritance in cancer and his relationship with what Gertrud and I had experienced.

The following summer, I was back in control – after diagnosis and multiple surgeries. In November 2012, we discovered that I was carrying the BRCA2 gene, one of two hereditary cancer genes called BRCA because they indicate a very high risk of breast cancer. In 2012, only women from high-risk families, with multiple members diagnosed under the age of 50, were screened for mutations in the BRCA gene. The test cost several thousand dollars (it now costs barely $ 100 and can be easily obtained).

Other tests confirmed that my mutation came from my father, finally putting into perspective the two different cancers of his mother – and probably the premature death of his own grandmother at 29 years.

The mutations in the BRCA gene leave women about 70% at risk of breast cancer and up to 40% at risk of ovarian cancer. Many carriers eventually choose to remove their breasts and ovaries by the mid-forties. What is less known is that mutations in the BRCA gene do not spare men, thus increasing their risk, even at a young age, of breast cancer, prostate cancer and pancreas.

Life was barely back to normal when, during one of our weekly calls, my father mentioned that he had a few stomach problems. Healthy all his life and for no reason to worry about what appeared to be indigestion, he did not think much about it. My father was then 78 years old and in men his age, digestive problems are common. But I did not think about ulcers or constipation. My mind went straight to pancreatic cancer.

Pancreatic cancer is very feared for a very good reason. It's one of the most deadly cancers we know, in part because it's rarely detected early. Approximately 55,000 men and women have pancreatic cancer each year in the United States and 44,000 die of it. Only about 5,000 of these cases are discovered early enough for surgery to remain an option and a chance for recovery, but even among these, barely 1 in 3 will survive five years after diagnosis.

For a person with a BRCA2 mutation, the risk of pancreatic cancer is up to 10 times higher than in people without mutation. Pancreatic cancer is the third most common cancer with mutations in the BRCA gene in men and women, and many women with BRCA2-related pancreatic cancer have already had breast cancer.

Knowing that Dad was a BRCA2 carrier significantly increased my concern that this could be pancreatic cancer, but in 2013, at the time of his diagnosis, there was no recommendation to regularly search for a person with a BRCA2 mutation for pancreatic cancer. My own circumstances and my knowledge of the mutation were without a doubt part of what saved him.

An exhaustive battery of tests confirmed my suspicions and, despite his early symptoms and immediate action, his pancreatic cancer was already advanced.

Before I knew it, I was in Switzerland and our roles were reversed. Instead of being in the patient's seat, I would be his protector and his lawyer as I accompanied him to his doctor's visits. Dr. Bruno Schmied, an experienced pancreatic surgeon in the city of St. Gallen, explained to us with compassion and finality that surgery was not an option. The age of my father and the advanced nature of the tumor made it a very dangerous and probably futile effort.

I asked Dr. Schmied if he was considering reconsidering a surgical operation if Papa's tumor contracted. I have underlined the particular circumstances of the BRCA mutation and the supreme physical condition of my father; he was pedaling 20 miles most of the time and roamed the Swiss mountains on others. He was surely strong enough!

When Dr. Schmied stopped, I was able to find that he was trying to decide whether he should address his response to the daughter of his Swiss patient or to the American expert. in oncology. After a long pause, he said that such an effect on the tumor was highly unlikely … but in principle, yes, if I could do it, he would reconsider. He wished us the best and left the room.

My father was stunned, "You really are someone.

The next morning, I woke up to a beautiful Swiss summer day. Daddy and his second wife, Marietta, were sitting in the garden, surrounded by buzzing birds and deeply colored summer flowers. While having a cup of coffee, I joined them. It was time to make a decision.

For most patients, pancreatic cancer progresses very rapidly. Almost all lose weight quickly, starving for cancer. We also knew that in the case of my father, 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 have chosen to take it out of this ordeal.

"Is there really hope? One way to reduce this tumor so that I can undergo surgery? Asked my father, his eyes searching for mine looking for expertise and reassurance.

"Yes," I say, "but that has a price; and the risk that, despite very aggressive chemotherapy, the tumor may continue to develop and you will not tolerate the treatment. "

"What will be my alternative?" Asked he.

"You can hope that your tumor develops slowly and that you have significant time before the tumor invades other organs and creates serious problems."

He then asked me an even more difficult question: "Do you think that will work?"

My father has been my fortress all my life – hard and motivated, rarely letting obstacles get in his way. Since I was little, he has instilled in me determination and courage. I could not really see him giving up so easily, and I would not want him either. I reached out my hand.

"The odds are against you," I say, "but knowing you, I think you'd rather go on fire rather than try at all." I then added words that "I do not know what to do." he had often repeated in my youth: you decide to do it. A smile crossed the tension of his face. We embarked on a new journey together, linked by our common cancer tests.

A week later, he received the first dose of a combination of aggressive chemotherapeutic treatments that Dr. Stefan Greuter, an oncologist in Switzerland, had accepted – only because Daddy had a BRCA mutation (and an extremely persuasive and medically formed). I still remember the nausea that I felt while looking at one of the most toxic chemotherapy regimens available in the veins of someone I loved so much. As I prayed for it to work, I also pledged to offer better treatments to treat this disease.

Conscious of the odds, I was simply hoping for an answer – any answer – so I was not at all prepared for the radical change of my father's tumor. I was back to work in San Francisco when I received a phone call from Dr. Greuter: After eight weeks of chemotherapy, the tumor was less than half of its original size.

Ten weeks after the start of treatment, we returned to the surgeon, Dr. Schmied, who clearly did not expect to see us in his office again. He was even more surprised when he saw my father's response to chemotherapy.

"It's his BRCA mutation," I said. "These tumors are much more sensitive to chemotherapy."

The surgeon looked at me with curiosity. "Why is that?"

As I told him, the Achilles' heel of tumors is the same defect that makes people with BRCA mutations more likely to have cancer. Cancer cells often escape the effects of chemotherapy by effectively repairing the damage they undergo. Cancer cells with mutated BRCA genes can not repair DNA damage and are therefore particularly vulnerable to chemotherapy agents that cause damage to the DNA.

He looked at the scans again with astonishment, then my father. The relationship between BRCA2 and pancreatic cancer and the excellent response of some patients to therapy were much less well understood. But I could see on his face a kind of conversion – a battle won not only for my father but also for many other patients who will benefit from greater awareness of these links. My father was operated on and his tumor was removed.

But his trip did not stop there. In two years, pancreatic cancer was back, requiring additional chemotherapy and two radiotherapy treatments. Fortunately, each treatment helped control his tumor without further surgery, and now marks the fifth anniversary of his diagnosis.

However, my father's story is not that of most patients with pancreatic cancer. Having a specialist in the latest cancer research at his side was a huge advantage. he was fortunate that his BRCA transfer was recognized and that he had access to quality care.

We hope that in the coming years, more citizens and health professionals will become aware of the link between mutations in the BRCA gene and pancreatic and prostate cancer. Many more patients could also benefit from the kind of research and treatment that saved my father. Indeed, since its diagnosis, a brand new type of therapy has been developed and approved, called PARP inhibitor, specifically tailored to people with mutations in the BRCA gene.

I am lucky to have spent many years with my father since his diagnosis, and this gift has confirmed my belief that there is always hope for something new that will change our destiny in the face of to cancer. But I could not finish his story without thinking about what he's done to get there, a lesson on what each of us can do to anticipate and fight cancer, with or without genetic predisposition.

Dad was seventy-eight years old when he was diagnosed. Until then, he had practiced almost every day of his life and ate a balanced diet. These habits may not have prevented the growth of his tumors or occurred in the first place, but they have clearly helped him survive the blows of the treatment.

A friend once said that to win the race, you have to stay in the race. Coping with metastatic cancer is a continuous battle. This requires constant support, resources, endurance and, above all, courage and hope. There are setbacks and bad endless days. But seeing my father come out of his fight, my own blue eyes meeting his, I'm proud. We are now connected by more than just blood and DNA.

-This essay is an adaptation of Dr. Munster's new book, "The Fate of Twist: My Journey with BRCA – From Breast Cancer Research to Patient and Back", published by The Experiment. She is a professor of medicine at the University of California at San Francisco.