Susan's Story

A Personal and Family History of Breast Cancer

Susan was 32 when she felt a small, new lump in her right breast on self exam. Her primary care physician recommended a biopsy and the results showed that the lump was indeed breast cancer. Fortunately, the cancer had not spread to lymph nodes or other organs by the time it was diagnosed and Susan had many treatment options available to her.

Because she was only 32 - much younger than the average woman diagnosed with breast cancer - Susan was referred for genetic counseling. Susan knew that her father's sister and his mother both had breast cancer before age 50. However, she had always thought this family history was irrelevant to her risk for breast cancer because it was on her father's side. 

Susan learned that her family history of cancer was indeed significant and that she was a good candidate for genetic testing for BRCA1 and BRCA2, two of the known inherited breast cancer susceptibility genes. She pursued testing and her results showed that she had inherited an alteration, or 'mutation' in the BRCA2 gene. This mutation explained why she had developed breast cancer at 32, and also informed her about her significantly increased risk for a second breast cancer (either in the same breast or the other breast) and for ovarian cancer. Susan felt lucky to have this information; she was able to discuss her options for managing these risks with her doctor and the genetics team and make decisions that were right for her. Susan's genetic test result also provided valuable information for her relatives: through a very accurate test for the specific mutation identified in Susan, her relatives learned whether or not they had inherited the significantly increased risk for cancer present in some members of the family. Those who had not inherited the risk were given great reassurance, while those who had inherited it were able to be proactive in managing their risks.