Study indicates that population‐based Ashkenazi Jewish BRCA testing does not adversely affect long‐term psychological wellbeing or quality‐of‐life, decreases anxiety and could identify up to 150% additional BRCA carriers.
BRCA testing in the Ashkenazi Jewish population shows high acceptability. Pre-test counselling increases awareness of disadvantages/limitations of BRCA-testing, influencing the final cost-benefit perception and decision-making of undergoing testing.
This study found unselected, high-risk multigene testing for all patients with BC to be extremely cost-effective compared with testing based on FH or clinical criteria for UK and US health systems. These findings support changing current policy to expand genetic testing to all women with BC.
I first learned of my dad’s cancer during my first week of what was to be a 7-week trip backpacking through South America. It was 11pm when I turned on my phone, totally exhausted after finishing a 30km hike through the mountains of Brazil that day. My phone lit up with messages, but a text from my cousin smacked me in the face, “I am so sorry about your dad.”
Panicking, I quickly skyped my parents back home in Vancouver. Speaking to dad, who had been undergoing tests for several months, I learned he had been diagnosed with prostate cancer, Stage IV, in the bones, no cure. It was devastating. Dad may have been 72, but he was in good health and should have had many good years ahead of him. The doctors gave him a 3-year prognosis. In the end, the cancer ended his life just 11 months after he was diagnosed. Through most of the cancer treatment, it was unclear why dad’s cancer was so incredibly aggressive. This was not the prostate cancer I was familiar with from my health textbooks. The one they always say, “You’ll die of something else before you die of the prostate cancer.”
This was not dad’s first run in with cancer. He’d be diagnosed with testicular cancer in his 50s, which recurred once. Because of that, dad had wondered if there might be a genetic issue and so, towards the end of his illness, he decided to join a drug study that would also provide a full gene sequence to him. His cancer progressed so rapidly that he ended up having his test fast-tracked. In spite of his unusual cancer, which did not respond very well to any of the therapies provided, his oncologist maintained that a genetic cause was unlikely. However, my mum, dad and I sat down in his office a just week before dad passed and he broke the news to us. Dad was a BRCA2 carrier.
We were confused – there was very little cancer history in our family. Certainly not the kind of history you would expect to see in a BRCA family, with scores of mothers and daughters being diagnosed with breast cancers before the age of 40. The only cancers our grandparents had seen were mild and hit in their 80s. Nothing altogether unusual. We then learned that as Ashkenazi Jews, we had a 1 in 40 risk of carrying these genes in our genome.
One of dad’s last gifts to our family was undergoing a final blood test to become the “index case” for our family. The blood was drawn in our family home just two days before he passed way.
Because of dad’s forethought and insight into his own health, I have now learned that I, too, am a BRCA2 carrier. Although the risk of inheriting the gene from a carrier is 50%, (a coin toss!) very few people in our family have inherited the gene. If dad hadn’t been tested, there is no doubt in my mind that I would have never known about the gene until it was too late. While learning of my carrier status was difficult, I am so grateful for the opportunities it affords me. I will now be able to make important choices regarding my health and will be better equipped to communicate with my doctors about needs for screening and potential preventative surgeries now and in the future. Dad’s illness and death was a huge loss for our family, I would do anything to have him back. But, because of him, I have a better chance for a future and for that I am so grateful.
In the 1970s, my parental grandmother, then a young woman, was treated for breast cancer and made a full recovery. She died in 2014 having never been tested for the BRCA gene mutation. When she died, I requested to be tested for BRCA through the BC Hereditary Cancer Agency but was denied because no one in my immediate family had had a cancer that would directly link me to the gene.
In December 2017, I received a phone call from my sister. She had joined a study at Women’s College hospital in Toronto that included testing for the BRCA gene mutation. She and was positive for the gene. I didn’t hesitate to register for the study and pay the $250 USD for the test. So, my test came, I spit in the cup, sent it back for testing, and a month later I received a phone call informing me that I was also positive for the gene. In that one phone call, I was told that my chances of getting breast cancer and ovarian cancer were extremely high. I was also told that I should make some quick decisions about having more children because screenings and preventable surgeries were now available to me and were recommended immediately. The study also connected me to BC Hereditary Cancer Agency. Decisions were made at home and fortunately, I was pregnant within a month. I had a plan for a salpingo-oophorectomy (a surgery to remove the ovaries and fallopian tubes) the following year. While all of this was happening in my life my sister had gone for her first mammogram. It was clear, but in more intensive screening (available to BRCA carriers) found cancer.
I watched my beautiful older sister go through a double mastectomy, chemotherapy, and radiation. My sister has made a full recovery and we celebrated the end of her chemo with the birth of my child.
I had my salpingo-oophorectomy the day before my sister’s reconstructive surgery. My sister is cancer free and alive from knowing she was BRCA positive and we are eternally grateful for that knowledge. Knowing I’m BRCA positive has afforded me the ability to make life decisions and have preventable surgeries to maintain my health. The knowledge
of being BRCA has been invaluable to my family. I truly believe now that knowledge is power.
by Tovah Carr, Previvor, Vancouver, BC
Keynote: Libby Znaimer
Location: Congregation Beth Israel, 989
Wednesday, January 8, 2020
One in forty??! So many of us… what a hard thing to digest!
My own ovarian cancer was diagnosed almost by mistake. I was referred for a transvaginal ultrasound because of symptoms that turned out to be totally unrelated to the cancer. The radiologist immediately recommended an MRI, which revealed the presence of masses on my ovaries and several other pelvic organs. I was referred to the BC Cancer Agency for an appointment with an oncologist, and was informed that I would undergo surgery in a few weeks. A date was later set.
It all happened really quickly. There was a cancellation, and my surgery was rescheduled. I had no time to mentally prepare for it, which was probably a good thing. My stress level would have been much higher if I had had to wait. The surgeon who called me to discuss what had transpired during surgery mentioned that it was probable that I carried the BRCA1 or BRCA2 mutation, as the type of ovarian cancer that was present in my body was commonly associated with the gene mutation. She expressed surprise at the fact that I knew so much about the BRCA mutations. In fact, I was woefully ignorant. I knew about the risk of breast cancer, and a few women I knew who carried the gene had elected to have prophylactic surgery. I knew nothing about the link to ovarian cancer; in fact, I knew nothing at all about ovarian cancer. I later learned that for carriers of the BRCA mutation, there was an additional risk of pancreatic cancer. I also learned about the link to prostate cancer and breast cancer in men. The learning curve was steep.
Surgery included the removal of some of my pelvic organs. The surgeon also scraped cancer cells from organs which had not been removed. I understood that tests were performed while I was under anaesthetic. The results of these tests determined the course of the surgery and led to the subsequent diagnosis of ovarian cancer. I would have chemotherapy as soon as the incision healed.
A month later, the oncologist who had been assigned to me led me into the lab at BC Cancer Agency, where I would have immediate screening for the BRCA1 and 2 gene mutations. He told me that it would be to my benefit if I was found to be positive, as a trial drug may be available to me after chemotherapy if I carried the gene mutation. The results were made available after 8 weeks, when I was called for an appointment with the BC Cancer Agency’s Hereditary Cancer Program. During the counselling session I was told that I was positive for the BRCA2 gene mutation. I had prepared data regarding deceased family members that I had knowledge of but, like many Jews of European descent, my siblings and I knew very little about family who had perished in the pogroms and the Holocaust. There were no known cases of cancer in my immediate and extended family, other than my brother who had been diagnosed with prostate cancer a few years earlier. I was advised to let all family members know the results of the test. My brother was subsequently tested and found to be BRCA2 positive, and has regular screenings now for breast cancer. Another family member, a second cousin who was tested after I shared my results, was also found to be BRCA positive. During a breast exam that she requested, a small cancer that is difficult to detect was found. It was safely removed.
After 18 weeks of weekly chemotherapy, I made the decision. I would take advantage of the availability of the trial drug, a PARP 3 inhibitor. I started taking it a month after my last treatment. Although there was a possibility that I was to receive a placebo, my blood tests were so obviously affected that I was sure that I had received the trial drug. It took a month for the correct dosage to be determined and I was relieved that I was able to tolerate it. An added benefit was additional screening: frequent blood tests, scans, and doctor’s appointments would be part of my routine. A month later I was informed that the study was “closed,’’ new patients would not be admitted. The drug would be available to patients (who were already in the study) for 3 years. The hope is that the benefits of the drug will be long term.
For me, knowledge is everything. Throughout the process, I found that the more I discovered about the gene and about my condition, the less anxious I became. I was able to trust the medical experts to make the decisions about protocol, to calibrate the exact dosage of chemo that my body could tolerate while destroying the cancer, while I concentrated on getting through the next week, before my next chemotherapy appointment. I was fortunate to have a brilliant and dedicated oncologist, and my care during those months was excellent.
Knowledge about your BRCA status makes it possible to make choices. A young woman who carries this gene may request clinical breast examinations beginning in her twenties. Some experts recommend regular mammograms for young women carrying the BRCA mutation. I know now that ovarian cancer is impossible to detect in the early stages. In my case, I had no symptoms and no reason to suspect that I had the condition. I honestly don’t know if it would have made a difference if I had known I carried the gene. I’m pleased that a family member did benefit from the knowledge of my BRCA status. And I think, that is the point. Individuals may not directly benefit from this knowledge. Family members may, and lives may be saved. This is what makes screening worthwhile. And knowing that one in forty carry this gene will surely be the most powerful motivator for Jewish people of Ashkenazi background to discover their own BRCA status and seek information.
-Anonymous ovarian cancer survivor, Vancouver, BC
I first became aware of the existence of the BRCA genetic mutation when my father was diagnosed with prostate cancer at the age of 60, about 25 years ago. Our family was informed about the existence of such genes, and individual testing was suggested, but I chose not to be tested. I didn’t see the point in knowing if I was at increased risk for prostate cancer. My brother chose to be tested. I can’t remember if my father was tested or not. At the time of my dad’s cancer diagnosis, he had missed a year of getting his PSA tested and when it finally was tested the following year, he was sent in for additional diagnostic testing which resulted in a prostate cancer diagnosis. At that time, the doctors felt that his cancer had spread to the point where surgery would not have been an effective treatment.
He was given about 5 years to live. He passed away about 9 years after that diagnosis after receiving various treatments. I then forgot about the BRCA genes and prostate cancer for about 13 years, though I dutifully got my DRE and PSA checked every year. When I was the same age as my father was when he was diagnosed with prostate cancer, I was diagnosed with it. Twelve of the 15 samples taken during my biopsy were cancerous. It was determined that my stage II cancer was aggressive and I received a robotic prostatectomy a few weeks later. My pathology showed that my cancer had progressed to stage III by the time I had the surgery.
It was at that time that remembered about the BRCA genes and started to assume I was positive because my father died of prostate cancer, and I had aggressive prostate cancer. In fact, I was sure I was positive, because upon further investigation of my father’s family (7 siblings), it turned out that many of them had been tested for the BRCA genetic mutation. A few positive cases had been found but not as many as one would think given the number of prostate and ovarian cancer cases in our family. On my father’s side, my Zaida and I, two cousins and at least two uncles all had prostate cancer. Some of them passed away from it.
At that point I decided to get tested for the BCRA mutation because I have two sons and I wanted to know if they were at increased risk for prostate cancer. I got tested and was surprised when the results showed I was not in fact a carrier of the genetic mutation, but happy that I won’t pass it on to my sons. Do I regret not getting tested years ago? No, because it wouldn’t have made any difference in my case. I was on increased surveillance as it was because of my father.
Should you get tested? I can’t say yes or no, however it behooves everyone to lead a lifestyle that reduces their risk of all forms of cancer.
-Anonymous aggressive prostate cancer survivor, aged 63, Vancouver, BC
Mathew Knowles is a music executive and the father of two highly successful powerhouses in the music industry, Beyoncé Knowles-Carter and Solange Knowles. He recently announced he is battling stage IA breast cancer in an interview with “Good Morning America” co-anchor Michael Strahan. In this first-person account, Knowles shares his story on coming to terms with his diagnosis, thoughts on the stigmas attached to male breast cancer and his hopes that his account will inspire more men to speak out.