What steps should be taken after testing positive for BRCA2?

Question

Hello doctor,

My sister tested positive for a BRCA2 mutation, with a 78 percent risk of breast cancer and a 45 percent risk of ovarian cancer. She is 32, has no cancer yet, and her mammogram and breast magnetic resonance imaging (MRI) are clear.

The genetic counselor recommended close monitoring, and she is considering a preventive mastectomy. Our mom passed away from breast cancer at 52, so we are scared.

Does preventive mastectomy reduce cancer risk?
Is there still a chance for other cancers?

Please guide us on what to do next.

Answer 1

Hello,

Welcome to icliniq.com.

I can understand your concern.

I understand your concerns regarding the BRCA2 mutation. BRCA1 and BRCA2 are genes that help repair damaged deoxyribonucleic acid, and mutations in these genes can increase the risk of cancers, particularly breast and ovarian cancer.

Women with these mutations have a significantly higher risk of developing breast cancer, with more than 60 percent of them developing breast cancer in their lifetime. In addition, those who have already been diagnosed with breast cancer may have an increased risk of developing cancer in the opposite breast.

The BRCA2 mutation also increases the risk of ovarian cancer, pancreatic cancer, and prostate cancer. Women with BRCA1 mutations have a 20 to 50 percent risk of ovarian cancer, while those with BRCA2 mutations have a 10 to 20 percent risk.

There are also other cancer risks, including melanoma and stomach cancer, though these associations are still being studied. For preventive measures, consulting a multidisciplinary team, including a breast surgeon and oncologist, is essential. Options such as mastectomy or breast-conserving surgery can be considered to reduce the cancer risk.

I hope this helps you.

Thank you.