Angelina Jolie’s double mastectomy and BRCA genes

by Jone Sampson, M.D.

I admire Angelina Jolie for sharing her very personal medical information with the public. Her story, shared in the New York Times yesterday, highlights the importance of being aware of a hereditary cancer predisposition, the value of genetic testing, the information gained from testing, and the options for managing the increased cancer risks associated with having a BRCA1 mutation.

As Director of Clinical Cancer Genetics at the Knight Cancer Institute, I work closely with a certified genetic counselor, Kelly Hamman. We offer genetic counseling and testing for hereditary cancer predisposition syndromes including BRCA1 and BRCA2.  Individuals are referred to us because they have been diagnosed with breast cancer before they turn 50 years old, have triple negative breast cancer diagnosed before they’ve turned 60, have ovarian cancer or male breast cancer. Women who are of Ashkenazi Jewish descent and have breast or ovarian cancer at any age are also referred to us. If a woman has a very strong family history of breast and ovarian cancer, she may be considered for testing or seek recommendations for earlier or more frequent screening based on her family history.

Our consultation: What can you expect?

We obtain a complete family history, assess a woman’s risk of having a mutation based on personal and family history, and discuss the issues around genetic testing. Those issues include dealing with the knowledge that they are at increased risks for breast and ovarian cancer if a mutation is identified, and the recommended options for increased screenings, possible surgery, and/or preventative chemotherapy.  We also emphasize that if a mutation is found, there are issues for her family to cope with as well. First degree relatives (siblings, children) of a woman with the BRAC1 mutation have a 50 percent risk of having inherited the same mutation.

You are genetically predisposed to develop breast cancer. Now what?

We meet with women again to review the results, and provide them with information to discuss the implications with their families. At OHSU we have state of the art imaging in the Breast Center for mammography. Our center also offers a breast MRI, and experts to discuss surgical options. We also serve as a resource and frequently recommend women consider seeking support. Two groups we often mention to women with BRCA mutations FORCE (Facing our Risk of Cancer Empowered) and Be Bright Pink.

We are thankful that Angelina started a broad conversation that will help others. We look forward to keeping the dialogue going and improving options for women at high risk for cancer. There is no reason why anyone needs to face these issues alone.


Jone Sampson, M.D., is an associate clinical professor and director of clinical cancer genetics for the Knight Cancer Institute.


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