What are safe fertility options for a BRCA1-positive person?

Question

Hello doctor,

My mother died of breast cancer at age 47, and my maternal aunt was found to be suffering from ovarian cancer at age 52. In view of my personal history, my genetic counsellor recommended a full cancer genome test, including BRCA1 and BRCA2 tests.

I am 33 years old with dense breasts, making mammography ineffective. The test results revealed a BRCA1 mutation, raising my probability of developing cancer throughout my lifespan.

My oncologist recommended preventive surgical procedures such as mastectomy and oophorectomy, but I don't want to undergo the procedure for the moment because I want to have kids before anything else. On the other hand, I am aware that I might be taking a risk.

My insurance company has approved enhanced screening with MRI and mammography every six months. My genetic counsellor also noted the significance of the results for the planning of my family.

Could you please advise me about the ways to lower my cancer risk without harming my fertility?

Please suggest.

Thank you.

Answer 1

Hello,

Welcome to icliniq.com.

Thank you for reaching out.

I am truly sorry for the loss of your mother and the difficult experiences your family has gone through. I can only imagine how overwhelming it must feel to receive a positive BRCA1 (breast cancer gene 1) result, especially at your age, when you are also thinking about starting a family.

It is completely natural to feel anxious, but I want to gently reassure you that this test indicates an increased risk, not a certainty that you will develop cancer.

I also understand how important fertility is for you right now. At 33, you still have good options, but it is wise to plan ahead. If you are hoping to conceive soon, we can support you in moving forward with pregnancy while continuing close monitoring.

If you are not ready immediately, egg freezing is a very good option; it allows you to preserve your fertility now and use those eggs later through IVF (in vitro fertilization) when you feel ready.

If you eventually consider preventive surgeries like mastectomy or removal of the ovaries and fallopian tubes, we can plan fertility preservation beforehand. Since the uterus remains intact, pregnancy can still be achieved later using your frozen eggs or embryos.

Another option sometimes discussed is hormonal therapy for risk reduction, but this can impact fertility, so again, egg freezing before starting such treatment would be important.

Your current plan of enhanced screening with MRI (magnetic resonance imaging) and mammography every six to 12 months is a strong and proactive step. This helps us detect any early changes at a stage where treatment is most effective, giving you more control and reassurance while you plan your next steps.

Your treatment plan and preventive options focus on reducing cancer risk while balancing your personal goals, especially fertility.

Active surveillance means close and regular monitoring with breast MRI and mammography, allowing early detection of any changes without immediate surgery. This is often a suitable approach if you wish to delay definitive procedures.
Preventive mastectomy involves the surgical removal of breast tissue to significantly lower the risk of breast cancer, and it can be combined with reconstruction, but it is usually considered when you feel emotionally ready.
Preventive oophorectomy, which is the removal of the ovaries and fallopian tubes, helps reduce the risk of ovarian and even breast cancer, but it also leads to loss of natural fertility and early menopause, so it is typically planned after completing childbearing.
Lastly, hormones can also be administered to certain patients who need to reduce the risk of developing cancer through estrogen suppression; however, this is not always the most effective treatment for everyone and may have an effect on fertility.

Review in three weeks or sooner if you have concerns.

Please remember, you are not alone in this journey. We can take this step by step, balancing your health, your future plans, and your peace of mind.

I hope this helps.

Please revert in case of further queries.

Thank you.