Tuesday, March 28, 2023

Dear Dr. Maslow,

My fiancé recently discovered that he is a carrier of the BRCA-2 gene. His mother had breast cancer when he was younger, and while she thank God is doing well, it was a tough time for him as a child. His older sister was diagnosed with breast cancer, prompting the whole family to get tested. He, his mom, older sister and 25-year-old single niece were discovered to be carriers.

We are all concerned about what this means for our family. We got engaged “late” (I’m 33) and planned to start trying for a baby right away. What could this mean for our children? Can they still inherit the gene even if the carrier is the dad? Is there anything we can do?

People are telling me to call off the wedding!


Panicked by Genetics

I’m so sorry to hear about the struggles facing your family. BRCA is one of several mutations that leads to an increased risk of cancer and is prevalent in Ashkenazi families. We have two copies of every gene, one inherited from our mothers and one from our fathers. BRCA carriers have an error in one copy of the BRCA gene, increasing their risk of breast and ovarian cancer. As a result, we hear more about the impact of BRCA mutations in women. Your fiancé’s diagnosis is still important for his own healthcare, as male carriers are also at risk for certain cancers. In addition, male and female carriers give the mutated copy of the gene to half their offspring. Taking time to learn how his diagnosis may impact your future family is wise. Each child you have together has a 50% chance of inheriting the BRCA mutation. Families often grapple with complex decisions about how and when to disclose the risk to their children. These discussions are best done with the support of experienced professionals. However, in your circumstance, there is also an alternative.

Preimplantation Genetic Testing for single gene mutations (PGT-m) utilizes in-vitro fertilization (IVF) to test embryos before pregnancy for a specific mutation. Many couples use PGT-m to prevent passing on mutations such as BRCA to their children. While undergoing IVF when you are not infertile may seem excessive, for families suffering from the burden of cancer-causing genetic mutations, knowing that the next generation won’t have the mutations can be a tremendous lifeline! Importantly, since 50% of embryos created in this circumstance may carry the BRCA gene, and the quantity and quality of a woman’s eggs decline with age, the success of IVF+PGT-m is exquisitely dependent on female age. Therefore, you and your fiancé may want to consider a discussion with a reproductive endocrinologist sooner rather than later!

I’d add that your niece may want to consider egg freezing, as well. Young BRCA+ women are often counseled to undergo risk-reducing surgical removal of their ovaries, usually in their 30s. Many are surprised to learn that if they have frozen eggs or embryos available, they can safely get pregnant without ovaries! Because half the eggs have the mutation and egg quality/quantity declines with age, this is also worth considering sooner rather than later. For more information on this particular aspect of fertility preservation, last year, colleagues of mine from the Jewish Orthodox Women’s Medical Association (JOWMA) and I published an article about it in a leading cancer journal. (Fertility Considerations for Reproductive-Aged Carriers of Deleterious BRCA Mutations: A Call for Early Intervention | JCO Oncology Practice [ascopubs.org/doi/full/10.1200/OP.21.00389])

Finally, I’m sure those telling you to call off your wedding are trying to protect you. You likely have a complex journey in front of you. Having stood alongside couples through some of their darkest moments, I’ve learned that we never honestly know what the future holds in any marriage or family. Strong relationships acknowledge and embrace the challenges—whether we knew beforehand or discovered them along the way. I wish you, your fiancé and your extended family many future reasons for celebrations!

Dr. Bat-Sheva L Maslow, MD, MSCR, is a reproductive endocrinologist and an expert on the intersection of reproductive medicine and Jewish life. To schedule an appointment with her at Reproductive Medical Associates (RMA) of New Jersey’s Englewood or Basking Ridge locations, see www.rmanetwork.com/NJ. You can invite Dr. Maslow to speak in your community or learn more about her educational projects on her website www.batshevamaslow.com and @blmaslowmd on Instagram.

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