(3) Pamela Munster, My Father's Fight Against the Breast-Cancer Gene; My grandmother and I both survived the disease, and knowing our genetic legacy turned out to be crucial in saving him. Wall Street Journal, Sept 29, 2018.
https://www.wsj.com/articles/my- ... cer-gene-1538146392
Quote:
"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 * * * 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 * * * 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.
"By the following summer [of the same year], 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 [as a pre-emptive strike, doing it before their organs turn cancerous]. 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. 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.
"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.
"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
"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.
Going to Switzerland where her father had lived, "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. 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 * * * After a long pause [due to his skepticism], he [Dr Schmied] said that such an effect on the tumor was highly unlikely…but in principle, yes, if I could make it happen, he would reconsider.
"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 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. 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. * * * As I told him [Dr Schmied], 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. * * * The relationship between BRCA2 and pancreatic cancer and the excellent response some patients can have to therapy was much less understood then. * * * 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.
"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.
"—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.
My comment:
(a) This article did not say what kind(s) of chemotherapy her father received, but probably not PARP inhibitor according to the penultimate quotation.
(b) Gertrude (given name)
https://en.wikipedia.org/wiki/Gertrude_(given_name)
(c) The German or Dutch surname Munster, Münster is from name of places of the same respective spellings, "derived from Latin [noun neuter] monasterium monastery."
(d) "1 in 40 people of Ashkenazi Jewish descent" carries a mutation in either BRCA gene.
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发表于 12-6-2018 15:02:23
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