Genetic Risk for Breast Cancer and the Case for Prophylactic Mastectomies


Health care news has been dominated today by the New York Times op-ed by actress Angelina Jolie, in which she announced that she decided to have a prophylactic double mastectomy because she carried a genetic mutation that puts her at very high risk for developing breast cancer. Jolie has a mutation to the BRCA1 gene that gives her an 87 percent lifetime risk of breast cancer and a 50 percent lifetime risk of ovarian cancer. Her mother died of ovarian cancer at the age of 56, and given her family and genetic history she decided to act now.

David Song, MD

Dr. David Song, chief of the Section of Plastic and Reconstructive Surgery at the University of Chicago Medicine, spoke to WGN News this morning about Jolie’s decision. He said the number of women opting for this aggressive approach is increasing.

“This is increasingly common because now we have the ability to genetically detect familial breast cancer early and to preemptively remove the risk of breast cancer in someone’s life,” he said. “When a woman gets the diagnosis for this gene mutation, it’s very important for her to consult with her surgeon and her reconstructive surgeon so that an individualized plan is set forth for her and prescribed for her. There are women that opt for monitoring, regular MRIs and exams, and women that say, ‘Listen, this is a ticking time bomb and I want this taken care of,’ much like Angelina Jolie did. And we’re seeing an increasing number of women opting for the latter choice.”

Prophylactic mastectomies can greatly reduce the risk of breast cancer in women with a genetic predisposition. However, only 5-10 percent of breast cancers are the result of gene mutations in BRCA1 and BRCA2, another gene linked to breast cancer risk. If cases like hers are rare, why are more and more women turning to mastectomies to prevent breast cancer?

Swati Kulkarni, MD

Dr. Swati Kulkarni, a breast surgeon at the University of Chicago Medicine, investigates why women are increasingly choosing this route when, in many cases, the surgery may not improve their survival. According to Kulkarni, preliminary results show greater awareness about cancer and fear of the disease is driving this increase (this article by health care reporter David Kroll from Forbes echoes this assessment).

Such a difficult decision rests on understanding someone’s genetic risk for developing cancer. Our Cancer Risk Clinic identifies and counsels people with an increased risk of all forms of cancer due to family history, medical and genetic conditions or lifestyle factors. Once the risks are determined, they design individualized cancer screening and risk reduction plans, including elective surgery such as a prophylactic mastectomy.

The Cancer Risk Clinic is part of the Center for Clinical Cancer Genetics and Global Health, which is conducting ongoing research on genetic and environmental risk factors for cancer, appropriate screening methods, and effective treatments. Oncologist and genetics expert Dr. Funmi Olopade, is an expert on hereditary breast cancer and cancer risk assessment. In the video below she talks about her research and the collaborative approach to developing new cancer treatments here at the University of Chicago.

Further Reading & Viewing:

More links to resources to help understanding genetic risks for cancer and context on prophylactic mastectomies:

Jaimie Oh contributed to this post

About Matt Wood (531 Articles)
Matt Wood is a senior science writer and manager of communications at the University of Chicago Medicine & Biological Sciences Division.
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