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If You Have a BRCA1 or BRCA2 Gene Mutation

If You Have a BRCA1 or BRCA2 Gene Mutation (Hereditary Breast and Ovarian Cancer Syndrome)

If you have been diagnosed with a BRCA1 or BRCA2 gene mutation, your physician and/or genetic counselor will likely make a variety of healthcare recommendations based on your specific mutation as well as your family history of cancer. A diagnosis of a BRCA1 or BRCA2 gene mutation is not a cancer diagnosis but rather increased life time risk of developing cancer. That is why individuals with a BRCA1 or BRCA2 gene mutation need to undergo earlier and more regular screening for certain types of cancer and may even need to take preventive strategies to reduce risk.

Communicate with Family Members

One of the first things you can do if you are diagnosed with a BRCA1 or BRCA2 gene mutation is to share this information with any direct relatives who may be at risk for having the syndrome as well. Your relatives may have no way of knowing that they have an increased risk of developing cancer. Sharing this information enables your family members to make informed decisions about their health. The information could prove lifesaving to family members, as it would allow them to employ screening and prevention strategies.

Screening for Cancer

A diagnosis of a BRCA1 or BRCA2 gene mutation presents an increased risk of cancer; however, it also presents an opportunity—for screening, prevention, and risk reduction. Your doctor will likely recommend a specific screening program for you based upon your individual risk.

Screening tests are tests that are designed to detect cancer prior to the presence of any symptoms. Screening for cancer helps ensure that cancer is detected in its earliest stages when it is most treatable. Furthermore, screening for some cancers, such as colorectal cancer, can also help to prevent cancer by detecting precancerous changes.

To review the National Comprehensive Network screening guidelines for individuals with a BRCA1 or BRCA2 gene mutation please go to Managing HBOC.