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


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

In 2013, when Hollywood actress Angelina Jolie revealed that she had undergone breast reduction surgery due to her high risk of breast cancer, the news captivated the attention of the world. Her bravery in sharing her personal experience brought awareness to the importance of genetic testing for breast cancer-related gene mutations. This phenomenon, now known as the “Angelina Jolie Effect,” has had a profound impact on women facing difficulties associated with these mutations.

One such woman is Evelin Scarelli, who was diagnosed with breast cancer at the young age of 23. Initially, Scarelli had no symptoms and no reason to suspect the presence of cancer. It was only by chance that she discovered an abnormality in her breast while performing a self-examination. At her first medical appointments, her youth made it difficult for doctors to suspect the presence of a tumor. Some even suggested that it might be a benign fat nodule or a less serious condition.

Scarelli underwent numerous surgeries, chemotherapy, and radiation therapy in the following years. Two years into her treatment, she received the shocking news that her mother had also been diagnosed with breast cancer. Given the family history and the fact that her maternal grandfather had died from peptic ulcer cancer, medical professionals recommended genetic testing for both Scarelli and her mother. The results confirmed their suspicions: both women had mutations in genes that increased their risk of developing breast cancer.

This recommendation for genetic testing had gained global attention after Angelina Jolie’s public announcement in 2013 that she had undergone a preventive double mastectomy due to a genetic mutation. Two years later, Jolie also had her ovaries removed. Scarelli, now 35 years old and a mother, reflects on the challenges she has faced since her diagnosis. She has had to navigate shared decision-making with her medical team regarding her treatment, monitoring her health, and determining the direction of her personal and family life.

Scarelli recalls the time when she was advised not to disclose her mutation status to others due to society’s lack of preparedness to understand and support individuals like her. This forced her to remain in the shadows for many years, grappling with the fact that she was in a limbo: no longer having cancer, but unable to be medically discharged due to the gene mutation she carries. However, she now feels less anxious and more empowered by openly discussing her DNA mutation.

Unfortunately, not all women have the privilege or ability to openly discuss their genetic mutation status. Joana Guimares*, for example, requested anonymity for this article. She tested positive for a gene mutation but has never been diagnosed with breast cancer. Her decision to undergo genetic testing followed the diagnosis and recurrence of breast cancer in a primary caregiver. Additionally, a strong family history of breast cancer heightened the need for testing. Guimares explains that her grandmother and several of her mother’s aunts were diagnosed with breast cancer at a young age.

Genetic testing in cases like Guimares’ aims to identify specific mutations in a patient’s DNA. It begins with testing immediate family members, such as mothers, sisters, and daughters, and may extend to relatives like cousins, aunts, etc. Once a mutation is found, individuals can take proactive measures to minimize their risk of developing cancer.

Dr. Rodrigo Guindalini from Oncology D’Or explains that approximately 10% of breast cancer cases are linked to genetic and familial factors. At least 15 genes have been identified to increase the risk of developing breast cancer, with the most common being the gene. Some mutations can elevate a person’s lifetime risk of developing cancer by as much as 80%.

However, not all women require genetic testing for breast cancer. Guidelines consider factors such as family history, age at diagnosis, and tumor characteristics. Currently, genetic tests for breast cancer are not readily available through Brazil’s public healthcare system. In health insurance plans, coverage is limited to patients younger than 35 who can provide clear evidence of a hereditary component.

Despite these challenges, there is good news. Over the past years, the cost of genetic testing has significantly decreased. The price of a single mutation test, previously around R$10,000, has now dropped to approximately R$2,000 for a genetic panel that evaluates multiple genes.

Doctors and patients alike advocate for expanding testing criteria and making the resulting data accessible through the National Health Service (SUS) in Brazil. The knowledge obtained from genetic testing can make a significant difference in how women with these mutations are treated and monitored.

The “Angelina Jolie Effect” continues to inspire awareness and conversations about genetic testing for breast cancer-related gene mutations. It serves as a reminder that early detection and proactive measures can make a substantial impact on the lives of women facing the difficulties associated with these mutations. With increased access to testing and support, women like Evelin Scarelli and Joana Guimares* can navigate their journeys with strength, resilience, and hope for the future.