My sister has breast cancer. How to preserve her fertility?

Question

Hello doctor,

My 34-year-old sister was just diagnosed with triple-negative breast cancer, and the oncologist recommended cancer genome testing to help plan her treatment. She is terrified because our mom died from breast cancer at age 52, and our aunt had ovarian cancer at 48.

The genetic counselor explained that cancer genome testing of her tumor can help determine which chemotherapy drugs might work best, but also mentioned germline testing for BRCA mutations.

Her tumor sample showed high microsatellite instability and PD-L1 expression of 65 percent, which sounds good for immunotherapy, but we do not really understand what it means.

She is scheduled to start neoadjuvant chemotherapy with carboplatin and paclitaxel next week, but waiting for cancer genome testing results is making her anxious. Also, we are worried about fertility because she has not had children yet, and chemotherapy might affect her ovaries.

The fertility clinic recommended egg freezing, but that would delay cancer treatment by two to three weeks. If cancer genome testing shows a BRCA mutation, should she get prophylactic surgery on the other breast and ovaries?

Insurance is fighting coverage for some of the testing, saying it is experimental. We really need to understand if cancer genome testing will actually change her treatment plan and prognosis.

Kindly suggest.

Answer 1

Hello,

Welcome to icliniq.com.

I understand your concern.

I hope you and your daughter are doing well. I am very sorry that she was diagnosed at an early age. But do not worry, cancer is treatable with proper management.

I want to explain the purpose of the genetic test we will do. The BRCA (breast cancer gene) test helps us know if she carries a mutation.

This gives us ideas about using new types of targeted therapy, like PARP (Poly (ADP-ribose) polymerase) inhibitors, which are mainly used if the tumor becomes resistant or metastatic in the future.

Regarding fertility preservation, she should have done egg freezing before starting chemotherapy, but it is not a problem. We can consider it after finishing chemotherapy. Since her tumor is hormone receptor-positive, we will give hormonal treatment to prevent recurrence and control the cancer.

Hormonal therapy usually lasts five to 10 years, depending on genetic test results. We can also give medications to protect her ovaries and fertility while on hormonal therapy, preserving her reproductive potential, like Goserelin.

Regarding preventive surgeries, like removing both breasts or both ovaries, these are options for patients who want surgical prevention. These surgeries can reduce the risk of cancer by about 95 percent.

If she prefers removing her ovaries, I recommend doing egg freezing before any ovary removal surgery. The uterus can remain, so she can have children naturally later. For the breast, if she chooses, we can do a mastectomy or lumpectomy, depending on her preference. All these decisions are up to the patient.

Regarding financial support, many programs help breast cancer patients, especially those with a strong family history. They can cover genetic tests and sometimes provide financial aid.

I hope her treatment journey will be smooth and simple. It’s very important that she receives psychological support from family, stays well-nourished, and keeps well-hydrated. With proper care and support, her treatment can be manageable.

I hope you find this helpful.

Kindly follow up after seven days.

Thank you.