BRCA Basics: What Everyone Needs to Know with Annual Update

This session, led by Dr. Rona Cheifetz, surgical oncologist at BC Cancer’s High Risk Clinic, offers a comprehensive overview of BRCA mutations and what they mean for your health. Dr. Cheifetz explains how these mutations are inherited, how they increase cancer risk, and what steps can be taken to manage that risk. She discusses evidence-based approaches such as screening, preventive surgeries, and current recommendations from BC Cancer’s Hereditary Cancer Program. Regularly one of our most popular sessions, it’s an excellent resource whether you’re newly diagnosed or simply seeking a refresher on the essentials of BRCA genetics and risk management.

Find the recording here.

BRCA Basics 2025 Q&A Transcript

Participant 1: Hi, thanks very much for your great presentation. I have two questions, if that’s okay. One is that I had a prophylactic mastectomy about 20 years ago because I am positive for BRCA2, and because my dad also had breast cancer. Should I still be monitored? I remember at that time my surgeon said that he took all the breast tissue out, so I’m not sure whether I should still be monitored or not.
And the second question is on pancreatic cancer. As you know, there is a blood test, a CA119 marker, which has a decent sensitivity and specificity. Would you recommend using that as a screening tool and avoiding the anxiety that may come with more invasive screening procedures?

Clinician: For your first question: it is not possible to remove all the breast tissue. I can honestly say that as a surgeon. You cannot remove all the breast tissue. We recommend that you pay attention to your chest and, ideally, that a physician examine you once a year. If there’s a new lump, it should be investigated.
As far as CA19-9, it’s what we call a tumour marker. It has not been shown to be effective as a screening test because not all pancreatic cancers make CA19-9 or CEA, and other things can also cause elevations of CA19-9. Tumour markers are more useful to monitor the response to treatment. For example, if you were found to have pancreatic cancer and your CA19-9 was elevated, and you started chemotherapy and the number went down, that’s a good thing. If the number does not go down, it means you’re not responding to the treatment. If it was elevated when you had pancreatic cancer, we also often use it for follow-up: once it’s back down to normal, you have repeat blood work, and if it starts to increase, we look to see if we can find that it came back. It’s sensitive when you already have pancreatic cancer diagnosed, but what we’re trying to do with screening is find things that are 5 millimetres in size. The problem with pancreatic cancer is that once it’s big enough to start secreting enough chemicals, it’s kind of too late—you’re not going to get good cure rates because it spreads quite aggressively.

Participant 1: Okay, thank you.

Clinician: You’re welcome.

Host: Thank you so much. Next question?

Participant 2: Hi. You hear me well?

Host: Yep.

Participant 2: Okay, thank you. I’m a BRCA2 gene mutation carrier. I learned about it after I was diagnosed with breast cancer. I’m in treatment right now—my hair’s growing back. I had to do chemo, like you said, even if I found it really small. I’m 40. I find it really tough to choose. They want me to do radiation, and radiation is also a risk factor for giving cancer, so I’m confused about that because I did do the mastectomy. And then the 5-year hormonal treatments are super scary. Listening to you say how bad it is for a young woman to go into menopause rapidly—for bone density and lots of things—like the precious estrogen, which also caused my cancer, so it’s really tough because quality of life is not often factored in. It’s always statistics and numbers. Did I hear in your presentation that surgery is kind of the same effect as taking those chemoprevention pills?

Clinician: First, I can’t address your individual care because I’m not your doctor and don’t know the details. What I said was that a lot of people who have breast cancer choose to have bilateral mastectomies, or will be encouraged to, because they have an increased risk of getting cancer on the other side, compared to people who are not mutation carriers. However, it depends on whether you’re premenopausal or postmenopausal. Premenopausal patients have a higher risk of another cancer on the other side. The treatments you’re having for your breast cancer also reduce your risk of getting a cancer on the other side. I was trying to make the point that you don’t have to feel like you must have a mastectomy on the other side. Whether you need one on the side with the cancer depends on that cancer.
Generally—again, not specific to your case—there’s always a balancing of risks and benefits. When doctors recommend treatment, they’ll tell you how much benefit you’re going to get. Is tamoxifen going to make you 30% more likely to survive 5 years, or 2%? Then you decide whether 2% is enough given the side effects.
Regarding radiation, you have to deal with the reality of what you currently have. Cumulative exposure to radiation is associated with a small increased cancer risk—say one in a thousand people (just making up a number for argument’s sake). But if that radiation is going to reduce your risk of the current cancer coming back by a much larger amount, the benefit can outweigh the possibility that it causes something later. When talking to your doctors, ask: how much “bang for the buck” will I get from this? If this cancer doesn’t get cured, then you won’t need to deal with what might happen 20 years from now—you have to deal with what you have now. You can’t be concerned about the long-term consequences of early menopause if you don’t get your cancer treated.
There are non-hormonal ways to control hot flashes, medications for bone strength, and other options—it’s just a bit more complicated.

Participant 2: That’s a good point.

Clinician: I apologize for the bluntness. Sometimes that’s the only way to get the message across. Do the best you can with your current problem; we’ll take care of everything else in other ways. [Editorial note: The clinician is stressing that it is important to know that early cessation of estrogen can increase the lifetime risk of osteoporosis, cardiovascular disease and dementia. If you are aware of these risks, there are steps you can take to mitigate them, even if you are not eligible for supplemental estrogen, due to a cancer diagnosis.]

Host: Thank you for that great question. Much of the supportive care we offer [at InspireHealth] is about helping increase the tolerability of some of the treatments you’re mentioning and supporting quality of life. There are other ways to help with management and support your quality of life.

Host: Next question?

Participant 3: Hi. I have the BRCA1 mutation. I was part of a hereditary clinic a long time ago. I had prophylactic surgery—both breast and a full hysterectomy with ovaries and tubes removed—quite young. My breast surgery was at 35, and my ovary removal at 38. I exited the high-risk clinic, but we’ve had a recent family diagnosis of pancreatic cancer and discovered there may be another tie to a diagnosis that didn’t really happen in the death of a close family member as well. I’m wondering: is there a way to re-enter a high-risk clinic? I know with pancreatic cancer there’s no great science around it, but as a 55-year-old woman, I think I should be doing something.

Clinician: You don’t need to come back into the [BC Cancer Hereditary Cancer Program] High Risk Clinic, but your primary care provider needs to be aware of the increased risk and recommendations. You can reach out to the [BC Cancer] Hereditary Cancer Program about the issue; they can send updated summary recommendations. It’s always good to notify them of new cancers in the family because they keep your family history on file, and [screening and prevention] recommendations change [regularly, as the science is updated]. Since all you need is a referral to a gastroenterologist and for your doctor to do an annual blood test, there isn’t anything we do in the High Risk Clinic for this—it’s done by others, which is why we don’t bring you back to the program for that.

Participant 3: I brought my primary care up to speed, and there was concern about doing scanning—unnecessary scanning. We did a full blood workup, but from what I heard tonight there is a recommendation for scanning.

Clinician: Yes, particularly if you have a family history in a first- or second-degree relative. I have to tell you that most family physicians know very little about hereditary cancer. I was a cancer specialist before doing this and knew very little about hereditary cancer, even though I was doing preventative mastectomies. You have to trust the hereditary cancer program and its guidance. That’s why we like to send things in writing to your doctor. I bold things in my consults—“I want you to do a breast exam every year”—because once it’s in writing, it’s harder not to follow, and it becomes a legal issue if recommendations aren’t followed.

Participant 3: One other question. Our daughter tested positive as well; she’s quite young and had a lumpectomy last summer that was not cancerous. She did her testing in another province, and in her post-test follow-up, they said that before deciding to have children, she should consult BC Cancer because there’s new science about decreasing the risk of passing the gene to a child. Is there information about that?

Clinician: There’s something called pre-implantation genetic testing [PGT]. You can go through IVF; when the embryo is created, it can be tested. If it carries the mutation, those embryos are not implanted. The problem is it’s not covered by health insurance [MSP]. Information about that comes through the provincial medical genetics program because it’s about prenatal testing. There are a few other ways to do it—that’s what they would have been talking about.

Participant 3: They also suggested our son should be tested for the same reason if he decides to have children. He hasn’t decided yet.

Clinician: Your point about sons is important. Personally, I think it’s unethical to have a 50% chance of carrying a mutation that you could pass on and choose to marry without notifying your partner. People should get tested, even though screening for men may start later. It’s common for boys to delay or for people not to appreciate that their sons could carry the mutation. Also, the vast majority of patients do not do pre-implantation genetic testing; they have their children, and we deal with whatever comes. This [BRCA gene mutations/changes] is not a lethal condition—we can prevent cancers. There are other mutations where PGT is more clearly worth it because cancers can occur in babies.

Host: Thank you. We’re over time—do we have a couple more minutes?

Clinician: Yes.

Host: Next question—thank you for waiting.

Participant 4: I was wondering when mainstreaming genetic testing started and how fast it can be done through that process.

Clinician: I don’t have that off the top of my head; that’s handled by a different part of the program. Generally, we could get test results within six weeks (that was about ten years ago when expedited). Mainstreaming has been going on for at least five years, probably longer. It was slow for oncologists to step up because they felt they didn’t know enough. We now have a nurse who supports referrals from oncologists and helps them order the test, with support from the Hereditary Cancer Program, so they don’t feel like they have to handle a whole discussion they don’t know much about.

Participant 4: Why, if I had bilateral breast cancer, would my gene testing have taken many months? Why wouldn’t it have been rushed?

Clinician: I can’t speak to your case. Usually, we expedite when a new diagnosis suggests a patient might be a mutation carrier and the result will impact surgical decision-making—for example, bilateral mastectomies, if positive. Until PARP inhibitors [drugs that target cancers associated with BRCA mutations], knowing carrier status didn’t change chemotherapy or radiation recommendations, which may be why nothing was rushed in your case—but I don’t know.

Participant 4: It’s disappointing because I had bilateral lumpectomies, then got my gene information, and then had to have bilateral mastectomies.

Clinician: Sometimes that happens anyway. If we’re trying for bilateral mastectomies with reconstruction, we might not be able to coordinate surgery in a timely fashion. You have to deal with the cancer you’ve got. We would do lumpectomies, start chemotherapy, then do second-stage surgery. As much as nobody wants more than one anesthetic [surgery], it’s reasonable care when you don’t yet know what’s going on.

Host: Thank you. Next question?

Participants 5 & 6: Hi. I was diagnosed with the BRCA1 gene. Is there a connection between that and any skin cancers? I recently had a growth on the back of my neck on my spine. I’m going for a punch biopsy tomorrow. It’s difficult to get into a plastic surgeon. My doctor said he would feel better about getting the biopsy to check what it is. Is there a connection? He’s concerned because I have BRCA1.

Clinician: We think there might be a small increased risk of melanoma with BRCA2, but not yet been shown with BRCA1. You are at the same risk as everyone else for skin cancer from sun exposure. Your doctor’s approach is excellent. With increased genetic risk, any persistent symptom or problem should be investigated to prove it’s not cancer. Without the mutation, the doctor might have said, “Let’s recheck in three months.” Being more cautious is appropriate. If something is large-ish, a punch biopsy is appropriate; if it’s cancer, you can then have a one-shot definitive surgery. That area has tight skin, so it can be hard for a family doctor to remove the whole thing and close it.

Participants 5 & 6: Thank you.

Host: Thank you so much. Two more quick questions?

Participant 7: I’ve been in a very long waiting queue for a double mastectomy. I was interested in your statement that tamoxifen is preventative. Could I request from my practitioner that I go on that while I continue to wait, or do I just sit it out?

Clinician: When people choose preventative mastectomies, I don’t recommend taking a medication for risk reduction, because the benefit is long-term. You take it for five years to get the reduction. If you’ve already been waiting for years, you’ll likely have surgery before you’ve taken five years of tamoxifen.

Participant 7: Okay. [expletive]

Host: Thank you. Last question.

Participant 8: Quick question. I have the BRCA1 gene as well as an ATM gene mutation. I’ve been in contact with the Hereditary Cancer Program, which has been great. They recommended I go back to my primary care practitioner to have pancreatic screening because we have a number of cases in the family. The practitioner’s response was: What is pancreatic screening other than diabetes blood tests? Do you have a recommendation? I know you talked about an MRI.

Clinician: We refer patients to large-center gastroenterology groups. They take it from there: they’ll do an endoscopic ultrasound, then see you the next year and order an MRI, and so on. In some smaller centers, gastroenterologists don’t want to order MRIs; if it’s someone we’re still following, they do the ultrasound, and the next year we order the pancreatic MRI. Your family doctor needs to refer you to a gastroenterologist, indicate that the ATM mutation is driving the need for pancreatic cancer screening, and specify alternating endoscopic ultrasound with MRI. Who orders the MRI depends on who you see.

Participant 8: Thank you.

Host: Thank you so much. Great array of questions and thanks for the extra time. We have one minute left to share a couple of contacts and a brief survey link. For questions about this program, please use the provided general contact. For those here this evening, you registered for supportive services; please avail yourself of counselling and medical support offered.

The next session will be on a Wednesday in November, 7:00–8:30. We’ll be joined by speakers to talk about the next frontier of removing tubes first and related research, including a small study on this topic and work on opportunistic salpingectomy. It should be a really interesting session with the newest information on this topic. A huge thank you to our clinician for an incredible presentation and Q&A. Thank you all for being here. See you in a month!