Increased Breast Cancer Risk in Women with NF1

Author: Bev Oberlander, Dr. Bruce Korf, NF Network
Published On: 10/15/2023

In recent years, it has become clear that women with NF1 are at an increased risk for breast cancer, with the risk being two to three time higher in women with NF1 than in those in the general population. Also, these cancers occur at a younger age and tend to be more aggressive in women with NF1 than those that occur in women in the general population.

The nature and composition of the cancers, however, are not different. In many women who have been diagnosed with breast cancer, a genetic panel of tests is performed to detect mutations that might be associated with the cancer. The NF1 gene is now being tested as part of this panel, as well as other genes including BRCA1 and BRCA2. However, it’s important to note that the increased risk of breast cancer in women with NF1 is not associated with mutations in the BRCA1 or BRCA2 genes.

The reason for the increased risk of breast cancer in women with NF1 is not completely understood. We know that cancer is the result of the accumulation of genetic alterations that cause cells to behave abnormally. The NF1 gene has been shown to have mutated in many common cancers, which might indicate that the NF1 mutation puts an individual one step closer to developing other cancers.

The increased risk of breast cancer in women with NF1 raises questions about screening recommendations. The National Comprehensive Cancer Network (NCCN), an organization that issues screening guidelines for various cancers, recommends that women with NF1 should be screened for breast cancer at an earlier age than the general population, beginning at age 30. View the full NCCN guidelines on risk management here.

Bev Oberlander, a breast cancer survivor living with NF1, also shares the importance of speaking out and speaking for yourself and your care. "You and your doctors are a team – and you are an equal partner in your fight. Never be afraid to discuss all your options and remember more and more is being learned every day about the relationship between NF1 and breast cancer." Read her full story here.


The above excerpts have been written by Bruce Korf, geneticist, neurologist and scientist. Dr. Korf directs the UAB NF Program. Read his full article here.

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