Is preventive surgery an option at 36 with a PALB2 mutation?

Question

Hello doctor,

I found out I carry the PALB2 gene mutation. My genetic counselor was not very clear about what it meant for my breast cancer risk. I am a 36-year-old, planning my second pregnancy, but now I am scared.

Should I get the double mastectomy first? What is the risk percentage compared to BRCA? My insurance says preventive surgery is not covered yet. Are there other options? Also, worried about passing this on to my daughter. Should she get tested when she is older?

Thanks.

Answer 1

Hi,

Welcome to icliniq.com.

I can understand your concern.

PALB2 (partner and locator of BRCA2 gene) gene mutation and breast cancer risk are associated with:

1. Increased risk: PALB2 is a gene that helps repair DNA damage. A mutation in this gene increases the risk of developing breast cancer.

2. Risk percentage: Studies suggest that women with a PALB2 mutation have a 33 % to 58 % lifetime risk of developing breast cancer, compared to 12 % to 13 % for women without a mutation.

3. Comparison to BRCA (breast cancer gene): The breast cancer risk associated with PALB2 is lower than that of BRCA1 (72 %) and BRCA2 (69 %) mutations.

Pregnancy and family planning:

No need to delay pregnancy: You can proceed with your pregnancy plans. However, discuss your PALB2 mutation with your healthcare provider to determine the best approach for your situation.
Genetic testing for your daughter: Your daughter may want to consider genetic testing when she is older (typically around age 18). However, this decision should be made after discussing the risks and benefits with a genetic counselor.

Risk management options:

1. Screening: Enhanced breast cancer screening, including annual mammograms, breast MRI (magnetic resonance imaging), and clinical exams, can help detect cancer at an early stage.

2. Preventive surgery: While a double mastectomy may reduce your breast cancer risk, it is a personal decision that should be made after consulting with a healthcare provider and genetic counselor.

3. Chemoprevention: Medications like Tamoxifen or Raloxifene may be options to reduce your breast cancer risk.

4. Insurance coverage: Discuss with your policy agent.

I hope this information will help you.

Thanks.