Carly is a 49-year-old woman who has never had cancer. Recently she found a lump in her breast that was biopsied and found to be benign. However, after this scare, Carly began looking into her family history and is now interested in pursuing genetic testing for BRCA1 and BRCA2 mutations. Carly's mother died of ovarian cancer at the age of 51, and her maternal aunt, Joan, developed breast cancer at the age of 41. After being treated with mastectomy and chemotherapy, Joan is alive today at the age of 65. Carly's grandmother developed breast cancer at the age of 62 and died from metastatic breast cancer at the age of 68.

Carly's Decision

Although physicians and genetic counselors believe genetic testing to be appropriate for Carly's family, they don't believe such testing should begin with her because she isn't the most likely person to be carrying a mutation. Because her aunt Joan developed breast cancer at an early age, she's the most likely member of this family to have a BRCA1 or BRCA2 mutation and thus the best person with whom to begin testing. Carly explains this to her aunt, who after discussing the issue with her own doctors and the genetic counselor Carly referred her to, decides to proceed with testing.

Both Carly and Joan understand that if DNA sequencing of Joan's BRCA1 and BRCA2 genes reveals a deleterious mutation, the genetic culprit for their family's cancer has been found. However, they also understand that if no mutation is found, this doesn't mean they are not at increased risk for cancer but simply that the genetic culprit for their family's cancer is not detectable via current testing methods. If this is the case, there would be no point for Carly to pursue testing herself, and she and the rest of her family would need to continue to follow the more aggressive screening and prevention guidelines recommended for high-risk individuals.

The Results

Joan tests positive for one of the genetic mutations known to alter the protein and to be associated with breast and ovarian cancer. Armed with this knowledge, Carly decides to proceed with testing herself. However, rather than undergo DNA sequencing, she'll be tested via the less expensive and time-consuming site-specific analysis. This looks only for the mutation that's already been identified in Carly's family. Carly is relieved to find out that she hasn't inherited the mutation that runs in her family and is thus at no greater than average risk for breast and ovarian cancer.