How to treat breast cancer with BRCA1 mutation in women?

Question

Hello doctor,

I recently received the results of my cancer genome testing, and I am feeling overwhelmed and unsure of what they mean for my treatment plan. I have been diagnosed with triple-negative breast cancer and have a BRCA1 mutation, along with several other genetic variants.

My oncologist mentioned that my tumor shows high microsatellite instability (MSI) and a PD-L1 expression of 85 percent. My CA 27.29 tumor marker is elevated at 125, and my CEA is 8.2. The report suggests that my cancer may respond well to immunotherapy but also shows resistance markers to certain chemotherapy drugs.

I am also concerned because my sister passed away from ovarian cancer at the age of 38. Now, I am worried about my 14-year-old daughter’s risk. The genetic counselor suggested considering prophylactic surgery, but I am only 35 and still hope to have more children in the future.

Could you help me understand what these results mean for my prognosis? Also, should my daughter be tested for BRCA mutations now, or is it better to wait until she is older?

Please help.

Answer 1

Hi,

Welcome to icliniq.com.

I read your query and can understand your concern.

You mentioned that you have been diagnosed with triple-negative breast cancer (TNBC, a type of breast cancer that does not have estrogen, progesterone, or HER2 (human epidermal growth factor receptor 2) receptors, making it harder to treat) along with a BRCA1 (breast cancer 1) gene mutation. Let me explain what this means and outline the current recommendations for management.

Understanding triple-negative breast cancer and BRCA mutations:

Triple-negative breast cancer is a type of breast cancer that does not express estrogen (ER), progesterone (PR), or HER2 receptors. This makes it more aggressive and limits the available treatment options.
Breast cancers that are ER- and PR-positive usually have a better prognosis.
BRCA1 and BRCA2 are inherited gene mutations that increase the risk of developing breast and ovarian cancers.

The risk associated with BRCA mutations:

BRCA1 mutation:

The lifetime risk of breast cancer is 50 percent to 85 percent.
Risk of ovarian cancer: up to 40 percent.
Often associated with triple-negative breast cancer.

BRCA2 mutation:

The lifetime risk of breast cancer is 50 to 60 percent.
Risk of ovarian cancer: around 20 percent.
Also associated with an increased risk of cancers of the prostate, colon, gallbladder, bile duct, stomach, and pancreas.

Management and treatment options:

Primary treatment of TNBC typically includes:

Aggressive chemotherapy.
Surgical treatment such as mastectomy, with or without reconstruction.
In some cases, targeted or hormonal therapies may be used.

Screening and preventive measures:

Routine screening:

Annual mammograms (low-dose X-ray images of the breasts used to detect early signs of breast cancer) start at age 35 to 40 and continue until age 75.

For individuals who test positive for BRCA mutations:

Prophylactic bilateral mastectomy (preventive surgical removal of both breasts) with immediate reconstruction is recommended, which may reduce breast cancer risk by up to 90 percent.
Chemoprevention with medications such as Tamoxifen or anastrozole can reduce the risk by about 50 percent.
Premenopausal women may consider bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes) after completing their family, generally between the ages of 30 and 40.

Genetic testing for family members:

It is strongly recommended that your daughter consider genetic testing.

For younger individuals:

Breast ultrasound is preferred over mammography.
Regular self-breast examinations are important to notice any changes, such as lumps, nipple retraction, or changes in breast size.

I hope this helps.

Please revert in case of further queries.

Thank you.