18 Feb Genetics – Ask the Expert
We are delighted to post this set of “Ask the Expert” questions from Sheila Solomon, MS, CGC is a Certified Genetic Counselor focusing in clinical cancer genetics for the past 15 years. In addition to her work as Sharsheret’s Program Coordinator, she is employed by GeneDx, Inc., a subsidiary of BioReference Laboratories.
Question 1: I'm HER2 positive, BRCA negative; does this affect my family members?
Answer 1: HER2 is a protein found in some breast tumor cells and is not inherited in families. The presence of the HER2 protein can help your healthcare providers provide the most effective breast cancer treatments.
Question 2: When I was diagnosed with breast cancer in 2006, I had the multi-site 3 panel testing which came back negative. My oncologist has asked if I want to do the new testing that tests for 9 different genes linked to breast cancer risk in families. Is it worth doing? Could this new testing have an impact for my children or other breast cancer risks for me?
Answer 2: I’m glad to hear that your oncologist is educated about the new technology using multi-gene panels which allow us to test for multiple genes in a single test. It may be worth meeting with a genetic counselor to review any updates to your family history since 2006, which can clarify which additional testing would be helpful for you.
Question 3: I have Ashkenazi Jewish ancestry on both my mother's side and my father's side of the family. My father's mother died of breast cancer in her mid-60s and there is no ovarian cancer in any woman in the family. My mother’s family was murdered by the Nazis so I do not have health information about them. So I have been wondering, should I get tested for a genetic predisposition for breast and ovarian cancer?
Answer 3: People with Ashkenazi Jewish ancestry have a 1 in 40 chance of carrying a BRCA1 or BRCA2 mutation, which would increase breast cancer and ovarian cancer risks, among other cancers. Thank you for sharing the family history of breast cancer. It is interesting you note that it is on your father’s side of the family. Many people have thought that cancer on the father’s side of the family does not matter, when, in fact, it really does! Men can inherit and pass on BRCA1 and BRCA2 mutation just as equally as women can. So this is still important information. Generally speaking, the younger the diagnosis of breast cancer in the family, the more likely the cancer is hereditary/inherited. With the diagnosis in your grandmother’s mid-60s, it is difficult to say whether her cancer was caused by a BRCA1 or BRCA2 mutation, or if it occurred by chance. It would be worth discussing your personal and family history with a genetic counselor.
Question 4: I am BRCA 2 positive and had a double mastectomy and reconstruction, and the ovaries removed. I have 3 sons, oldest 31 and youngest 26, and I would like them to be tested. Where can they go?
Answer 4: I applaud you and your desire to arm your sons with the gift of medical knowledge! You certainly have taken many steps to reduce your own cancer risks with the genetic information you received and I imagine you would like your sons to know it, too. One of the best ways to begin the conversation is to share your results with them. Talk with them about a meeting called genetic counseling. Genetic counselors are trained healthcare providers who will discuss options with your sons and help to coordinate their testing, should they choose to proceed with the testing. Genetic counselors are located all over the country and world. You can find a local genetic counselor by visiting www.nsgc.org. If you or your sons have specific questions before they meet with the genetic counselor, Sharsheret is glad to be a resource to you and your family. Sharsheret offers Family Genetics Conference Calls, which offers a guided conversation between you and your family members, facilitated by Sharsheret’s genetic counselor to discuss your family’s BRCA genetics risk. You can schedule a call by contacting Sharsheret at 866.474.2774.
Question 5: I’m a 41 year old mom and wife to an amazing husband. I was diagnosed with breast cancer in April. As part of my diagnosis and treatment, I met with a genetic counselor and had genetic testing. I came back with positive for CHEK2. The original treatment plan had been to do 6 weeks of radiation. However, doing some research on my own, I’m pretty nervous about doing radiation, due to this gene. I’m curious if you have an opinion? Luckily, we saw the radiology oncologist this week and she agreed, and she intends to do more research before we proceed, too.
Answer 5: Thank you for sharing your story with me. I am so glad you have spoken with your genetic counselor and are arming yourself with as much knowledge as you can before making decisions. I cannot speak to your specific case and whether or not radiation is the right treatment, as each case is different and is based on number of factors. I recommend you explore this further with your doctor and treatment team. It sounds like your oncologist would be open to this conversation since she intends to do more research, too!
This post originally appeared on February 1, 2016, here.
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