Feature Archive

The Breast Cancer Gene: What Should You Do?

Is preventative mastectomy for women with breast cancer mutations a good idea?

WebMD Feature

Reviewed By Brunilda Nazario

Shortly after her mother died of ovarian cancer in 1999, Karen (who asked that her full name not be used) got a call from her first cousin, Joanne. Joanne, a cancer survivor, was in the process of researching their family's cancer history and had discovered that numerous female relatives had died from breast or ovarian cancer. She suggested that Karen consider getting tested for one of the inherited mutations -- called BRCA1 and BRCA2 --, which greatly increases the risk of breast cancer and can also increase the risk of ovarian cancer. If Karen had this genetic mutation, it would mean that she was also at high risk of developing breast cancer.

Karen, now 48, was tested at Memorial Sloan-Kettering Cancer Center in New York City and learned that in fact she did have a mutation on the BRCA1 gene, which means that her lifetime risk of ever developing breast cancer is as high as 80%. Depending on the age of a woman, the risk in the general female population is about 7%-8%. Because the lifetime risk of ovarian cancer is also high (15%-60%) in these women, this, too, was a concern.

"Even with my family history, I was shocked to learn that I had the gene mutation, but at the same time I felt lucky because I was the first person in my family who had the chance to do something about it," says Karen. These inherited mutations are responsible for only about 5%-10% of breast cancers.