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Ten years ago, Angelina Jolie made international headlines when she announced that she had undergone breast reduction surgery to reduce her high risk of breast cancer. Her courageous decision brought attention to the issue and has since been dubbed the “Angelina Jolie Effect”. Women with a breast cancer-related gene mutation, like Jolie and many others, face unique difficulties and challenges.
One such woman is Evelin Scarelli, who was diagnosed with breast cancer at the young age of 23. She had no obvious symptoms and it was only by chance that she discovered a lump in her breast. At her first appointments, no one suspected that she had a tumor due to her young age. Some doctors even thought it may be a benign fat nodule or something less serious. Scarelli underwent several surgeries, chemotherapy, and radiation therapy before receiving the shocking news that her mother also had breast cancer.
Upon learning of her family’s history with the disease and the fact that her maternal grandfather had died from cancer, medical professionals recommended that Scarelli and her mother undergo genetic testing. The test confirmed their suspicions – both women had mutations in the BRCA2 gene, which significantly increases the risk of developing breast cancer.
The timing of this discovery was significant, as genetic testing for breast cancer had gained worldwide attention due to Angelina Jolie’s public disclosure of her own genetic mutation and subsequent surgeries. Jolie’s mother had died from the disease, and she decided to share her story in order to raise awareness about the importance of genetic testing and preventative measures for those at high risk.
Over the past decade and a half since her cancer diagnosis, Scarelli has faced numerous challenges that have required her to make shared decisions with her medical team regarding her treatment, health monitoring, and personal and family life. She recalls being advised not to disclose her genetic mutation to anyone due to society’s lack of understanding and readiness to hear such information. As a result, she felt isolated and unable to discuss her struggles openly.
Scarelli’s experience highlights the ongoing difficulties faced by many women in similar situations. While she has since become more open about her genetic mutation, she recognizes that not all women can do the same due to various reasons such as workplace dynamics or healthcare costs. There is still a need to create a more supportive and understanding environment for those with genetic mutations.
Joana Guimares, whose name has been withheld for anonymity, also has a BRCA2 mutation but has not been diagnosed with breast cancer. She decided to undergo genetic testing after a primary caregiver in her family was diagnosed with the disease. The test revealed that she had inherited the mutation, increasing the risk for future generations as well. Guimares highlights the importance of genetic testing as it allows individuals to make informed decisions about their health and take steps to reduce their risk of developing cancer.
Determining when genetic testing is necessary and useful is an ongoing challenge. Dr. Rodrigo Guindalini of Oncology D’Or explains that genetic and familial factors account for approximately 10% of breast cancer cases. However, not every woman or patient with breast cancer needs genetic testing. Criteria such as family history, age at diagnosis, and tumor characteristics are taken into account when determining the need for testing.
Genetic tests for breast cancer are currently not covered by Brazil’s public healthcare system, and even in private health insurance plans, coverage is limited to patients under 35 who can provide clear evidence of a hereditary component. However, the cost of these tests has significantly reduced in recent years, making it more accessible to more individuals. Advocates argue for expanding testing criteria and making the resulting data available through the National Health Service to ensure that women with genetic mutations receive appropriate treatment and monitoring.
In conclusion, the “Angelina Jolie Effect” has shed light on the challenges faced by women with breast cancer-related gene mutations. Through the courage and openness of individuals like Jolie, Scarelli, and Guimares, awareness has been raised about the importance of genetic testing and preventative measures. It is crucial to create a supportive environment where individuals can openly discuss their genetic mutations and make informed decisions about their health. Expanding testing criteria and accessibility to affordable genetic testing are essential steps towards achieving this goal and improving the lives of women at high risk of breast cancer.
