Ten Years of the “Angelina Jolie Effect”: Women with a Breast Cancer-Related Gene Mutation Face Difficulties
In 2013, Angelina Jolie made headlines worldwide when she announced that she had undergone breast reduction surgery due to her high risk of breast cancer. Her decision shed light on the importance of genetic mutations in relation to breast cancer, and the effect this knowledge can have on women’s lives.
Evelin Scarelli was just 23 years old when she was diagnosed with breast cancer. She had no symptoms and nothing to raise suspicion. However, one day when getting changed, she felt something strange in her breast. At her first appointments, no one suspected that she had a tumor because of her young age. Some even thought it might be a benign fat nodule or something less serious.
After numerous surgeries, rounds of chemotherapy, and radiation therapy, Scarelli received shocking news two years later – her mother also had breast cancer. As a result of this second case in her family and her maternal grandfather’s death from peptic ulcer cancer, medical professionals recommended that Scarelli and her mother undergo genetic testing to look for mutations associated with an increased risk of developing breast cancer.
Confirming their suspicion, the DNA analysis revealed that both women had mutations in the BRCA2 gene, which significantly increases the risk of breast cancer development. This was around the same time that Angelina Jolie publicly announced her own genetic mutation in the BRCA1 gene and her decision to have both her breasts and ovaries removed.
Scarelli, now 35 years old and a mother of a 2-year-old, admits that the journey hasn’t been easy. In the past decade and a half, she has faced numerous challenges, from making shared decisions with her medical team regarding treatment, health monitoring, to even the direction of her personal and family life. Initially, she felt the need to keep her genetic mutation a secret due to society’s lack of understanding and support for those with mutations.
However, Scarelli now feels less worried and more empowered by openly discussing her DNA mutation. Unfortunately, she acknowledges that many women cannot do the same due to concerns about their work relationships or the costs of healthcare.
Joana Guimares* also requested her name be withheld from this article to protect her anonymity. She tested positive for a BRCA2 mutation but has never been diagnosed with breast cancer. Her decision to undergo genetic testing followed the diagnosis of a primary caregiver’s tumor and subsequent recurrence.
Guimares had a significant family history of breast cancer, with her mother conducting the test that revealed the mutation. This meant that there was a 50% chance that both Joana and her sister’s offspring would also inherit the BRCA2 mutation. Genetic testing isn’t just limited to immediate family members; it extends to other relatives such as cousins.
The analysis confirmed that Guimares had inherited the mutation, and her sister had not. She decided to undergo the test because it allowed her to take actions that could reduce her risk of developing cancer. The question then arises as to when genetic testing for breast cancer-related mutations is truly necessary and useful.
Dr. Rodrigo Guindalini, an oncologist, explains that 1 out of every 10 cases of breast cancer is linked to genetic and familial factors. There are at least 15 genes associated with an increased risk of developing breast cancer, with BRCA1 and BRCA2 being the most common ones. Some of these mutations can increase the lifetime risk of breast cancer by up to 80%.
However, current guidelines state that not every woman, and not every breast cancer patient, needs to undergo genetic testing. Criteria such as family history, age at diagnosis, and tumor characteristics are taken into account when determining whether testing is necessary.
In Brazil, genetic tests for breast cancer are not available through the public healthcare system, and health insurance plans only cover them for patients under 35 who can provide evidence of a suspicion of hereditary breast cancer. On a positive note, the cost of such tests has significantly decreased over the years. Instead of costing around R$10,000 for a single mutation test, individuals can now have a genetic panel test (evaluating multiple genes) done for about R$2,000.
Doctors and patients interviewed by BBC News Brazil advocate for expanding testing criteria and making the resulting data available through the National Health Service (SUS). They believe that this knowledge can make a world of difference in how women with these mutations are treated and monitored.
In conclusion, the “Angelina Jolie Effect” has had a significant impact in raising awareness about genetic mutations related to breast cancer. Women like Evelin Scarelli and Joana Guimares have faced numerous challenges due to their mutations, but they also recognize the importance of openly discussing and understanding these genetic factors. Expanding testing criteria and increasing accessibility to genetic testing are crucial steps in improving the diagnosis and treatment of breast cancer, especially in cases with a hereditary component.