Is your healthcare influenced by celebrities? Genomics and Hollywood: fame and misfortune fuel breast and ovarian cancer testing.

Hollywood and modern medicine: where do their roads cross? Celebrities have the power to influence your medical decisions. In fact, Hollywood has had a large impact on how and why people seek medical treatment. You might be thinking about plastic surgery and cosmetic care right now, but that’s not the topic of discussion today: cancer is, and, in particular, how celebrity cancer experiences have fueled many–in fear of heritable disease–to actively pursue preventative care.

Actress Angelina Jolie authored an article that the New York Times published in 2013 revealing that her mother had died at 56 in 2007 from cancer and that she herself had inherited the same BRCA1 genetic variant. Variations in the BRCA1 and BRCA2 genes are associated with hereditary breast-ovarian cancer syndrome, putting individuals with such changes in their DNA at increased risk of breast cancer, ovarian cancer, and (to a lesser extent) other forms of cancer. Jolie’s estimated lifetime risk of around 87% for breast cancer and 50% for ovarian cancer drove her decision to undergo a double mastectomy to bring her risk down to 5%. Jolie publicly cautioned women, especially those with a family history, to be proactive and seek preventative care. This resulted in a surge in BRCA1 and BRCA2 testing as well as referrals to clinics for genetic counseling. Researchers dubbed it “the Jolie effect.” Interestingly, overall mastectomy rates remained unchanged, even falling from 10% to 7% among women who had testing done. This suggests that a small portion of women are actually at risk for these genetic variations; at the same time, it is important to note that Jolie’s story coverage caused a rise in concern from a specific population that was not likely to carry these genetic changes. Nevertheless, this story opened the public’s eyes–wider–to genetic testing and preventative healthcare–an emotional but albeit insightful and life-saving tale of heightened awareness.

“The Jolie effect” brought attention to the fact that healthcare, too, is one of the many things that celebrities can influence. At the end of the day, this story put a spotlight on

an important issue: cancer prevention. Healthcare often focuses on treating people when already sick, but why do that when there are tools like genetic testing that can provide a pathway toward prevention and treatment before you’re sick? Jolie isn’t the only celebrity that has helped the public realize this–she was the first to go “viral,” but not the first to share her experience with preventative healthcare, genetic testing and inherited cancers. This January (2022), Tennis player Chris Evert told the public about her ovarian cancer diagnosis–the disease that took her sister’s life in 2020. Evert underwent preventative surgery (hysterectomy), as her diagnosis was made at stage 1C, and chemotherapy. Typically, ovarian cancer is diagnosed at stage 3 or 4, which Evert would have reached in a few months time had she not been diagnosed when she had, because of the concern in her family. In fact, early stage ovarian cancer is nearly impossible to detect, yet when Evert’s sister was diagnosed, she had tested negative for harmful BRCA1 variants, so the family hadn’t been encouraged to do genetic testing. But genetic testing has advanced since then, and it’s now been found that one of the variants she did test positive for is now considered pathogenic (increases risk). Four years after her sister’s diagnosis, the Evert family was notified of the newfound interpretation of her genetic report. Chris Evert immediately sent in her sample for testing, and her report revealed a pathogenic change in the BRCA1 gene. Because of this, her cancer was caught early. Her advice? “Be your own advocate. Know your family's history. Have total awareness of your body, follow your gut and be aware of changes. Don't try to be a crusader and think this will pass.”

A woman’s lifetime risk of developing breast and/or ovarian cancer is increased if a pathogenic BRCA1 or BRCA2 variant is inherited. 55-72% of women who inherit a pathogenic BRCA1 variant and 45-69% of women who inherit a pathogenic BRCA2 variant will develop breast cancer by 70-80 years of age. 39-44% of women who inherit a pathogenic BRCA1 variant and 11-17% of women who inherit a pathogenic BRCA2 variant will develop ovarian cancer by 70-80 years of age. This is compared to a woman’s general population lifetime risk of breast and ovarian cancers, which are 13% and 1.3%, respectively. Men are also at risk for breast cancer and prostate cancer if they inherit these changes, but to a lesser extent.

Everyone has two copies of BRCA1 and BRCA2 in their DNA, one inherited from each parent. These genes produce proteins that help repair damaged DNA, and since certain changes within their structure can predispose to cancer, they are referred to as “tumor suppressor genes.” People who inherit such changes tend to develop cancer at younger ages than people who don’t have a BRCA variant. Each child of a parent who carries a variant in one of these genes has a 50% chance of inheriting it. These are germline mutations that, when passed down, are present at birth in every cell of the body. Most of the time, when someone inherits a variant in BRCA1 or BRCA2, they’ve also inherited

one normal copy of that gene. However, this copy can be lost or changed in some cells over that person’s lifetime. If a cell doesn’t have BRCA1 or BRCA2 proteins that function appropriately, they can become cancerous.

Anyone who is concerned about their family history or the potential of having a harmful change in their BRCA1 or BRCA2 genes should discuss their concerns with their healthcare provider or a genetic counselor. It’s recommended that those with a family history of cancer undergo genetic testing. If someone knows that they have a variant in one of these genes, steps can be taken to reduce risk or detect cancer early, and if they have cancer, genetic information can be important when it comes to selecting treatment.