Diez años del Efecto Angelina Jolie: Las mujeres con una mutación genética relacionada con el cáncer de mama enfrentan dificultades


Ten years after the “Angelina Jolie Effect” made headlines around the world, women with a breast cancer-related gene mutation continue to face difficulties. Evelin Scarelli, who was diagnosed with breast cancer at the young age of 23, shares her journey of facing and overcoming challenges.

Scarelli initially had no symptoms and had no reason to suspect that she had cancer. It was by chance that she discovered something strange while getting dressed one day. She went for her first appointments, and no one suspected that she had a tumor due to her young age. Some even thought it could be a benign fat nodule or something less serious. However, after multiple surgeries, rounds of chemotherapy, and radiation therapy, Scarelli received shocking news – her mother also had breast cancer.

Upon learning about Scarelli’s family history and the fact that her maternal grandfather died from peptic ulcer cancer, medical professionals recommended that both Scarelli and her mother undergo genetic testing. The DNA analysis confirmed their suspicions – both women had mutations in the BRCA2 gene, which increases the risk of developing breast cancer. This genetic testing gained global attention when Angelina Jolie, an American actress whose mother died of breast cancer, publicly announced in 2013 that she had her breasts removed due to a genetic mutation in the BRCA1 gene.

Scarelli, now 35 years old and a mother of a two-year-old, reflects on the challenges she has faced since her cancer diagnosis. She had to learn to make shared decisions with her medical team, not only regarding her cancer treatment but also her health monitoring and the direction of her personal and family life. Initially, Scarelli felt pressured to keep her mutation a secret due to societal unpreparedness to listen and understand. She lived in a state of limbo – no longer having cancer but unable to receive medical discharge due to the mutation she carries.

However, Scarelli now feels more comfortable openly discussing her DNA mutation. She acknowledges that there are still many women who cannot do the same due to factors such as workplace relationships or the costs of healthcare plans. Joana Guimares, who also has a BRCA2 mutation but has never been diagnosed with breast cancer, emphasizes the importance of genetic testing. After her family history revealed a high risk of breast cancer, Guimares decided to take the test to make informed decisions that can decrease her cancer risk.

But when is genetic testing necessary and useful? According to Dr. Rodrigo Guindalini of Oncology D’Or, about 10% of breast cancer cases are linked to genetic and familial factors. There are at least 15 genes associated with an increased risk of breast cancer, with BRCA1 and BRCA2 being the most common ones. However, not every woman, or every breast cancer patient, needs to undergo genetic testing. Several criteria are taken into account, including family history, age at diagnosis, and tumor characteristics.

Unfortunately, genetic tests for breast cancer are not yet available through Brazil’s public healthcare system. Even in private health insurance plans, coverage is limited to patients under 35 who can provide clear evidence of a hereditary component. However, the price of these tests has significantly decreased over the years, making them more accessible. It is now possible to have a genetic panel done, evaluating several genes at once, for a significantly lower cost.

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). This knowledge can greatly impact the treatment and monitoring of women with these mutations. The “Angelina Jolie Effect” has paved the way for increased awareness and understanding of genetic mutations related to breast cancer. It is essential to continue the conversation and work towards providing access to genetic testing for all women who may be at risk.