The Angelina Jolie Effect: A Decade of Challenges Faced by Women with Breast Cancer-Related Gene Mutation

Ten Years of the “Angelina Jolie Effect”: Women with a Breast Cancer-Related Gene Mutation Face Difficulties

When Angelina Jolie announced in 2013 that she had breast reduction surgery due to her high breast cancer risk, the news made headlines throughout the world. Her decision not only raised awareness about breast cancer but also shed light on the importance of genetic testing for those with a family history of the disease.

One woman who knows the importance of genetic testing all too well is Evelin Scarelli. When she was just 23 years old, Scarelli discovered she had breast cancer. She had no symptoms and nothing to raise suspicion until one day she felt something strange while touching her breast. Her young age led doctors to dismiss the possibility of a tumor, but further tests revealed that she indeed had invasive carcinoma.

Over the next two years, Scarelli underwent numerous surgeries and rounds of chemotherapy and radiation therapy. Then, she received even more shocking news – her mother also had breast cancer. As a result of the second case in her family and her maternal grandfather’s death from peptic ulcer cancer, medical professionals recommended genetic testing for Scarelli and her mother.

The DNA analysis confirmed their suspicions – both women had mutations in the gene associated with an increased risk of breast cancer. This was around the same time that genetic testing for breast cancer gained worldwide attention with Angelina Jolie’s public announcement about her own genetic mutation. Jolie not only had her breasts removed but also underwent surgery to remove her ovaries.

Now 35 years old with a young son, Scarelli has faced countless challenges since her cancer diagnosis. She has had to make shared decisions with her medical team about her treatment, health monitoring, and even the direction of her personal and family life. For many years, Scarelli felt compelled to keep her mutation a secret due to societal unpreparedness to understand and support individuals with genetic mutations.

However, Scarelli now feels less worried about discussing her mutation openly, though she acknowledges that many women still face obstacles in doing so. Workplace relations and healthcare costs are just a couple of the factors that hinder women from openly discussing their genetic mutations and taking necessary actions to reduce their cancer risk.

Another woman, Joana Guimares*, also discovered she had a mutation but has never been diagnosed with breast cancer. Guimares’ decision to undergo genetic testing came following her primary caregiver’s tumor diagnosis and subsequent recurrence. With a family history of breast cancer, including her grandmother and several of her mother’s aunts, Guimares decided it was essential to know her own risk.

The test revealed that Guimares had inherited the mutation, while her sister did not. She chose to undergo the test because it would provide her with valuable information to reduce her cancer risk. The decision to undergo genetic testing depends on various factors, and experts emphasize that not every woman or even every breast cancer patient needs testing. Family history, age at diagnosis, and tumor characteristics are some of the factors considered when determining the necessity of genetic testing.

In Brazil, genetic tests for breast cancer are not currently available through the public healthcare system. Even in health insurance plans, coverage is limited to patients under 35 who can provide clear evidence of a hereditary component to the disease. However, the cost of these tests has significantly decreased over the years. While a single mutation test used to cost around R$10,000, a genetic panel that evaluates several genes at once now costs approximately R$2,000.

Many doctors and patients advocate for expanding testing criteria and making the resulting data available through the National Health Service (SUS) in Brazil. They believe that increased access to genetic testing can greatly impact how women with these mutations are treated and monitored for breast cancer. As the “Angelina Jolie Effect” continues to raise awareness about genetic testing, it is crucial to prioritize accessibility to these tests for those at risk of developing breast cancer.