The Angelina Jolie Effect: Unveiling the Challenges Faced by Women with a Breast Cancer-Related Gene Mutation

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Ten years have passed since Angelina Jolie made headlines around the world by announcing her breast reduction surgery due to her high risk of breast cancer. Since then, the “Angelina Jolie Effect” has shed light on the difficulties faced by women with a breast cancer-related gene mutation.

Evelin Scarelli was only 23 years old when she discovered she had breast cancer. She had no symptoms or suspicion until one day, by chance, she felt something strange while touching her breast. Initially, no one suspected that someone so young could have a tumor, and some even believed it could be a benign fat nodule or something less serious.

However, after many surgeries, rounds of chemotherapy and radiation therapy, Scarelli received shocking news – her mother also had breast cancer. It was recommended that both Scarelli and her mother undergo genetic testing to look for mutations associated with an increased risk of breast cancer development.

The DNA analysis confirmed their suspicion – both women had mutations in the BRCA2 gene, which increases the risk of developing breast cancer cells. This genetic testing gained worldwide attention when Angelina Jolie publicly announced in 2013 that she had a genetic mutation in the BRCA1 gene and had her breasts removed, followed by ovarian removal surgery two years later.

Scarelli, now 35 years old and a mother of a two-year-old, recounts the challenges she has faced over the last decade and a half since her cancer diagnosis. She has had to make shared decisions with her medical team regarding her cancer treatment, health monitoring, and even the direction of her personal and family life. Moreover, she initially felt the need to keep her mutation a secret due to societal unpreparedness to discuss it openly.

However, Scarelli now feels less worried and more stimulated to have open discussions about her DNA mutation. She acknowledges that many women still cannot do the same due to concerns about their work relationships and healthcare costs. It is important to protect their anonymity and respect their privacy when discussing such sensitive matters.

Joana Guimares*, who requested anonymity, also has a BRCA2 mutation but has not been diagnosed with breast cancer. Her discovery followed a family history of breast cancer, with her grandmother and several of her mother’s aunts being diagnosed at a young age. Genetic testing revealed that Guimares had inherited the mutation, and she decided to undergo the test to take actions that could decrease her risk of developing cancer.

Genetic testing for breast cancer-related mutations is not considered necessary or useful for every woman or breast cancer patient. Around 1 in every 10 cases of breast cancer is linked to genetic and familial factors, with at least 15 genes associated with an increased risk of developing the disease. Guidelines for genetic testing consider factors such as family history, age at the time of diagnosis, and tumor characteristics.

While genetic tests for breast cancer are not currently available through Brazil’s public healthcare system, the cost of these tests has significantly decreased in recent years. However, they are only covered by health insurance plans for patients younger than 35 who can provide clear evidence of a suspicion of hereditary breast cancer.

Doctors and patients interviewed in this article advocate for expanding the criteria for genetic testing and making the resulting data available through Brazil’s National Health Service (SUS). Access to this knowledge can make a significant difference in how women with these mutations are treated and monitored.

In conclusion, the “Angelina Jolie Effect” has brought attention to the difficulties faced by women with a breast cancer-related gene mutation. It has highlighted the importance of genetic testing, but also the need for expanded access to these tests and the resulting data. By increasing awareness and ensuring proper healthcare support, women with these mutations can make informed decisions about their health and receive appropriate monitoring and treatment.