Inherited mutations in the BRCA1 and BRCA2 genes are linked to a high lifetime risk of breast and other cancers. The reviewed study shows that women who know that they have a BRCA mutation before they are diagnosed with breast cancer have improved outcomes including diagnosis at earlier stages and improved overall survival. This article was prepared by XRAY, a publication that provides reliable information about cancer research-related news and information.
This expert-led webinar presented by Heather Cheng, MD, PhD, discusses the importance of identifying hereditary cancer risk mutations for prostate cancer. Dr. Cheng discusses prostate cancer treatment and trials, as well as, screening trials for men with hereditary prostate cancer.
About The Speaker
Dr. Heather Cheng, MD, PhD, is an Associate Professor in Medicine (Oncology Division) at the University of Washington, an Associate Member of the Division of Clinical Research at the Fred Hutch Cancer Research Center and is Director of the Prostate Cancer Genetics Clinic at the Seattle Cancer Care Alliance. As a medical oncologist she designs and conducts therapeutic clinical trials, particularly for men whose cancers have mutations in genes related to DNA repair, such as BRCA2, BRCA1.
Please find the link to the webinar-on-demand here.
Presented by Oneinforty.org, this webinar features speakers, Dr. Elizabeth Etkin-Kramer, Dr. Ranjit Manchanda, Dr. Ephrat Levy-Lahad and Dr. Sophia George discussing the latest research supporting the case for population based testing. The webinar was presented in November 2020 and a recording is available on the Oneinforty.org website.
Population BRCA testing in Ashkenazi Jews reduces anxiety and does not adversely affect psychological health or quality of life.
Manchanda R, Burnell M, Gaba F, Desai R, Wardle J, Gessler S, Side L, Sanderson S, Loggenberg K, Brady AF, Dorkins H, Wallis Y, Chapman C, Jacobs C, Legood R, Beller U, Tomlinson I, Menon U, Jacobs I. Randomised trial of population-based BRCA testing in Ashkenazi Jews: longterm outcomes. BJOG 2020;127:364–375.
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.
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.
The National Institutes of Health (NIH) is seeking male participants (30-75) with a genetic risk factor for developing prostate cancer. The study includes regular MRI screening and biopsies for those showing irregular tests. For more information, please contact Anna Couvillon at the National Institutes of Health.
Graphic Novel Study
Are you a male at high risk for developing hereditary cancer but has not been diagnosed with cancer? Do you have a family history of carrying a BRCA1/2 genetic mutation? Do you feel you have information to make informed health and family decisions about your future? Are you interested in sharing your experiences to help others?
Participate in a 60-minute online interview. Participants will receive a $30 Amazon gift card. If you are interested in this research opportunity, please the study coordinator Ms. Lexi Ingle at firstname.lastname@example.org.
Population BRCA testing in Ashkenazi Jews reduces anxiety and does not adversely affect psychological health or quality of life
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.
81 Attitude towards and factors affecting uptake of population based BRCA testing in Ashkenazi Jews: a cohort study
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.