Tag Archives: BRCA2

David’s Story, 2021

I am 49 years old and was diagnosed as a positive BRCA mutation carrier in July 2021. This was following a consultation with my family doctor, at which I asked if I should be genetically screened.

She agreed I should be tested because of my family history and European Jewish heritage and made the referral to the local Health Sciences Centre.

She asked me to tell her where my family came from and what I knew about their medical history, including any cancer diagnoses and this is what I shared with her.

My Dad’s grandparents came from Russia and Romania and immigrated to Canada in the early 1903.

I knew both my Bobba and Zaide very well. Bobba suffered from Angina. My Zaide had excellent health until age 83 when he experienced back pain and went to the doctor. They discovered he had liver cancer, presumed it was secondary to prostate cancer and he passed away 3 weeks after the initial diagnosis.

My Mum’s grand parents, were both born in Russia and immigrated to St. Paul Minnesota in the early 1900’s. My grandfather enrolled in the US army and had heart problems. He died following a second heart attack at age 49. My grandmother, however, lived to the ripe old age of 93 and passed away in 2012 from natural causes.

My Dad is now 78 and in good health. My mother, however, died at age 58. She was diagnosed with breast cancer at age 35, was given a total mastectomy and was in remission for 20 years. However, in 2002 she experienced bad back pain and was diagnosed with ovarian cancer and, sadly, died 18 months later. Her sister, my Aunt, was diagnosed with breast cancer in 2016 and is now following treatment to ensure it does not return. One of her daughters, my cousin, died of lung cancer in 2014 and since then the rest of the family has all been screened for the BRCA genetic mutations. Both my girl cousins have tested positive, as did one of their daughters.

This was the reason I decided I would like to be screened. It was also the reason that I did not need or request genetic counseling prior to testing. I also did not want or need counseling following the positive result.

However, I did go back to my family doctor, to discuss the finding. She has been amazing and is very knowledgeable about the BRCA genes and the related cancer risks. She did a and prostate examination which was normal and PSA screening which also came back normal and she told me I did not need to be referred to an oncologist at this time. She would be responsible for my on-going care, ensuring I have regular screening for potential prostate problems and told me how to do regular breast screening on myself at home.

I cannot fault the doctors who I have consulted with. They are thorough and have given me amazing support.

-David Salita, 49, BRCA2 positive

Jewish Men’s Health and Cancer: What do genes have to do with it?

This webinar will focus on the essentials of what Jewish men need to know about managing their health and preventing prostate and other cancers. We will begin with a presentation by urologic surgeon and internationally renowned clinical scientist Dr. Goldenberg (CM, OBC, MD, FRCSC), who will provide an overview of “what is mens health” and risk factors for a variety of illnesses, including prostate cancer. Following this talk, there will be an in-depth discussion of two genes known for their roles in women’s breast and ovarian cancers – BRCA1 and BRCA2 – now becoming better understood as a factor in several men’s cancers including breast, aggressive prostate cancer, pancreatic cancer and melanoma. Jewish men are at high risk of carrying these genes and are able to pass them on to their children. We will also hear some stories of men in our community who have been affected by these genes. Finally Dr. Goldenberg, along with members of the BC Cancer Agency’s Hereditary Cancer program will be available to answer any audience follow up questions.

You can access the webinar through this link: https://youtu.be/pZ10oMRtTdA.

This webinar was presented to parent groups in the BC Jewish community on April 12th 2021. Event description: “Many of us are not aware of our Jewish roots that put us and our families at greater risk of several genetically-driven cancers. Join us to learn about the BRCA genes, which affect 1 in 40 people with Ashkenazi Jewish ancestry and increase the risk of early onset and aggressive cancers. During this hour, we will talk about options for testing, cancer prevention and how to discuss this difficult issue with your children and other family members. This event will feature personal stories from community members and Q and A with members of the BC Cancer Agency’s Hereditary Cancer Program and a special presentation by Dr. Lesa Dawson on BC’s new Survivorship Clinic.”

Please find the link to the recording here: https://youtu.be/zrJRHGjAx44

It begins with you: the BRCA genes in the Ashkenazi Jewish population

A recent article was featured in the Fall edition of the Journal of Family Practice Oncology, written by two of our own BRCAinBC committee members –  Allison Mindlin, Genetic Counsellor, BC Cancer Hereditary Cancer Program and Dr. Rona Cheifetz, Medical Lead, Hereditary High Risk Clinic, BC Cancer. We are very proud of the hard work of all members of our committee, who continue to work diligently to spread awareness of the importance of BRCA gene testing for the Ashkenazi Jewish population here in BC.

Please find the fully linked article here: http://www.bccancer.bc.ca/family-oncology-network-site/Documents/2020FallFPONjournal_Sep14web.pdf

FAQ from Your Jewish Genes Webinar

The following Q and A made up of questions from members of our BC Jewish community who attended the webinar, Your Jewish Genes, on October 1, 2020. The answers have been provided by Dr. Rona Cheifetz, Surgical Oncologist of the BC Cancer Agency. We hope you find the answers informative.

Besides Tay-Sachs and Gauchers, what are the other genetic diseases that are common in Jewish people?

This question is a bit beyond the scope of the BRCA in BC mandate. There are multiple genetic disorders that occur more commonly in Ashkenazi Jews than in the general population. The most common are Gaucher disease, cystic fibrosis, Tay-Sachs disease, familial dysautonomia and Canavan disease. The following article from Health Link BC summarizes the topic nicely.

https://www.healthlinkbc.ca/health-topics/tv7879

Is melanoma hereditary within the Jewish Community?

Yes, there an increased risk of melanoma associated with pathogenic variants (mutations) in BRCA2 compared to the general population.

If I am only 50% Jewish, do I have only 50% of the genetic issues?

Yes, however, genetic mutations also occur in non-Jews. It is important that an entire family history be considered to determine whether someone is at risk of having a genetic problem.

If I do not qualify for public testing, what is the cost of private testing?

This varies somewhat between laboratories and is dependent on how broad a range of testing you choose to have, but currently the price is approximately 200 USD.

If I don’t have the gene does it mean I am not at risk for breast cancer and can stop the annual mammograms.

Women without genetic mutations still have an 11% lifetime risk of breast cancer and 90-95% of cancers occur in people without known genetic mutations. So, you should continue to have screening mammograms. These are recommended every two years for women in BC aged 50-74.

What should we look for in deciding which of the private genetic testing service companies to select for our testing? (ie how to select between Color, Invitae, Lifelabs)

Each company offers slightly different options as far as the number of genes tested, the cost of testing and the support services provided. More information about this can be found on the BRCA in BC website here.

How do we get access to a genetic counsellor?

Genetic counselling is offered through the Hereditary Cancer Program at BC Cancer. You can be referred by your primary care practitioner or by yourself. The website with contact information is http://www.bccancer.bc.ca/our-services/services/hereditary-cancer.

Some of the private labs offer genetic counselling services as well.

Can these mutations change in the course of a lifetime?

No, you are born with your genetic code and it doesn’t change during your lifetime.

Is there evidence that hereditary cancers can appear in people who are older than 60? I have many close family members who died of cancer in that age bracket

Each family is unique and while we often see cancers occurring in younger than average ages in mutation carriers, if a family had several older members with the same or related cancers this would still warrant consideration of a genetic mutation.

My mother was the 6th person in her AJ family to have pancreatic cancer.  She was BRCA negative (her blood was tested after she died).  I was told that there was a cluster of pancreatic cancer in my family of unknown genetic cause…no genetic cause was found after extensive testing on her blood sample.

There are other genes besides BRCA2 that increase the risk of pancreatic cancer, so it is important that these were assessed as well. We do recognize that Familial Pancreatic Cancer occurs wherein a genetic explanation has not yet been found. The human genome is large, and we have only identified some pathogenic variants (mutations) with known associated diseases. There is a Familial Pancreatic Cancer research program in BC which currently offers screening with MRI and endoscopic ultrasound for people with pancreatic cancer in first degree relatives (parents, siblings, children).

Should I be tested for BRCA or any other genetic mutation even though my mother was negative?

Genetic mutations can be inherited from either parent. If there is a strong history of cancer in your father’s family then genetic testing could be offered based on that history.

At what age do you recommend talking with young women about the possibility of them carrying the gene (family history)?

There is no specific age that we recommend, as it really is a function of the maturity of the child and what has happened in the family that they might already know about. For example, if a grandparent and a parent have had cancers that the child is aware of, they might be asking questions and be worried quite young. In general, girls should be encouraged to be self -aware of their breasts as part of routine personal health care. Screening with MRI for breast cancer begins at age 25 so consideration of referral to the Hereditary Cancer program by then is important. Genetic testing is only done once they have reached legal age.

What are the ‘other’ (other than ovarian, breast and prostate) cancers related to the BRCA gene?

BRCA 2 carriers are at increased risk of pancreatic cancer and melanoma.

Both BRCA1 and BRCA 2 carriers are at risk of primary peritoneal carcinoma. This is similar to ovarian cancer but occurs in women who have had preventative removal of their tubes and ovaries.

Both BRCA1 and BRCA 2 carriers are at risk of fallopian tube cancer. There is increasing evidence that the fallopian tubes are actually to source of what we call ovarian cancer.

Other cancers may also occur more commonly in BRCA1 and BRCA2 carriers, but the increase in  risk is small compared to the general population risk . More research is being done to try to define these risks and our understanding will continue to evolve over time.

My parents died when I was young, and I have no siblings. There is cancer in my aunts, uncles, cousins. Do you think I may qualify?

If your extended family has cancers in the hereditary cancer spectrum (breast, ovary, prostate, pancreatic for BRCA mutations, for example), then you should be referred to the Hereditary Cancer Program. Typically, we try to test a person in the family who has had cancer (or encourage them to be tested if they live outside of BC). If a genetic mutation is identified in that individual, then you would likely qualify for funded testing.

What if we are children of Holocaust survivors and only can go back to our parents. No grandparents etc?

If you have no family history of cancer, including in aunts/uncles/cousins, etc, then currently you are not eligible for funded testing in BC. However, as an Ashkenazi Jew, you still have a 1 in 40 chance of carrying a mutation. It is because of this type of situation that we are recommending that you consider private pay testing.

How is a decision to be tested made if you don’t have knowledge of previous generations? Is a mother with ovarian cancer and Ashkenazi heritage enough.

Your mother’s personal history of ovarian cancer and Ashkenazi heritage is enough for her to have genetic testing. If she is found to carry a mutation, then you would qualify for testing for that same mutation.

Can you avoid passing this Gene through IVF?

It is possible to have what is called prenatal genetic testing done through IVF. In this situation the embryos are tested for the genetic mutation and only embryos without the mutation are implanted.

Do you think I should postpone my mammogram til after Covid if I have an immune compromised family member, if I don’t have a family history of breast cancer but I have a family history of colon cancer?

I can’t really provide individual medical advice in this forum. Only you and your own primary care provider can decide what the balance of risks are for you as an individual. It is important to recognize though that most people who get breast cancer do not have a family history of breast cancer.

Is it possible to have more than 1 BRCA mutation? either a BRCA1 and BRCA2 mutation, or mutations on both copies of the BRCA genes?

Yes, it is possible to have any of these combinations. You might inherit a BRCA1 mutation from your mother and a BRCA 2 mutation from your father. Or you might inherit a particular BRCA1 mutation from your mother and a different BRCA1 mutation from your father. This is, however, uncommon.

I am over 70 with no children so I don’t think there is any point in being tested. I do have a nephew who has two daughters and may mention it to him when they get older.

It is important that you discuss this with your nephew now and not wait until his daughters are older. Men with these mutations are at increased risk of cancers as well, not just women (male breast cancer, prostate cancer, and pancreatic cancer).  There are screening recommendations for male breast cancer and for prostate cancer for mutation carriers that would apply to your nephew.

I think my 6 family members who died of Pancreatic Cancer were all smokers, and I wonder if this could have been the trigger?

Smoking is a known risk factor for pancreatic cancer and individuals with family histories of pancreatic cancer should not smoke. However, such a large number of affected individuals in a single family is very suspicious for a genetic cause rather than just being caused by smoking alone.

Are Sephardic Jews equally at risk (as Ashkenazi Jews)?

Sephardic Jews do not have the same risk of BRCA mutations as Ashkenazi Jews. The risk in this population is still being investigated.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Re-Launch of The Screen Project

Today marks the launch of The Screen Project Phase II! The Screen Project is a Canadian National initiative to make BRCA1 & BRCA2 screening available to all Canadians over 18 years of age at an accessible price. As part of The Screen Project, you will also help their team of researchers at the Familial Breast Cancer Research Unit of Women’s College Hospital evaluate the benefits of population-based genetic testing. The hope that is that this study will reduce the mortality from breast, ovarian, prostate and other cancers.

The Screen Project provides accessible testing to high quality, timely and affordable genetic testing to all Canadians, regardless of family history of cancer. The testing costs $250 and is conducted by Invitae, a reputable lab based in the United States, which is significantly more affordable than comparable genetic testing services. You also have the benefit of knowing that your results will help inform the future of genetic testing in Canada.

We hope that this great project will act as a resource to the members of our BC Ashkenazi Jewish community who are interested in genetic testing but may not currently qualify for BC’s Hereditary Cancer Program.

For more details, please check out The Screen Project’s updated website: www.thescreenproject.ca.

An ovarian cancer survivor’s story

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