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


Ten years have passed since the “Angelina Jolie Effect” first captivated the world’s attention. Angelina Jolie, a renowned actress, made headlines in 2013 when she revealed that she had undergone breast reduction surgery due to her high risk of developing breast cancer. Her brave decision shed light on the struggles faced by women with a breast cancer-related gene mutation.

Evelin Scarelli was only 23 years old when she received her breast cancer diagnosis. She had no symptoms and nothing to raise suspicion. However, one day, while she was getting dressed, she felt something strange when she touched her breast. This discovery led her to her doctor’s office, where she received the news that she had an invasive carcinoma.

It took some time for Scarelli to receive her diagnosis because her young age made it difficult for doctors to suspect that she had breast cancer. Some even believed it may be a benign fat nodule or something less serious. However, further examinations confirmed her worst fears.

Around two years after Scarelli’s diagnosis, her mother also received the devastating news that she had breast cancer. Medical professionals recommended that both Scarelli and her mother undergo genetic testing to identify any mutations associated with an increased risk of developing breast cancer cells. This decision was influenced by the fact that there was a second case of breast cancer in the family and that Scarelli’s maternal grandfather had died from peptic ulcer cancer.

The DNA analysis confirmed their suspicions. Both Scarelli and her mother had mutations in the BRCA2 gene, which significantly increased their risk of developing breast cancer. This was a time when genetic testing for breast cancer gained worldwide attention due to Angelina Jolie’s public announcement that she had undergone preventive surgeries to reduce her risk.

Despite facing numerous surgeries, chemotherapy, and radiation therapy, Scarelli’s journey has not been easy. Over the past decade and a half since her diagnosis, she has faced various challenges that have required her to make shared decisions with her medical team regarding her treatment, health monitoring, and even her personal and family life.

Scarelli recalls the initial hesitation to openly discuss her mutation. Society wasn’t ready to listen, and she was advised not to disclose her condition to anyone. This led to many years of secrecy and feeling stuck in a state of limbo. She no longer had cancer, but she couldn’t be discharged from medical care due to the mutation she carried.

However, Scarelli now feels less worried and more empowered to talk openly about her genetic mutation. She acknowledges that not all women can do the same due to work relations or the costs of health insurance. It remains a challenge for many women to navigate the societal implications of their genetic mutation.

Joana Guimares* shares a similar story. She also carries a BRCA2 mutation but has not been diagnosed with breast cancer. Her decision to undergo genetic testing came after her primary caregiver was diagnosed with breast cancer, which later recurred after three years. Guimares had an extensive family history of breast cancer, with her grandmother and several aunts being diagnosed at a young age.

Guimares’ mother took the test that revealed the mutation. This meant that there was a 50% chance that Joana and her sister also carried the mutation. Genetic testing is recommended in cases where a specific mutation is found in a patient’s DNA, extending the testing to immediate family members. The results confirmed that Guimares had inherited the mutation, but her sister did not.

For Guimares, undergoing genetic testing was essential as it allowed her to take proactive measures to reduce her cancer risk. But when is genetic testing truly necessary and useful for breast cancer-related mutations?

According to Dr. Rodrigo Guindalini of Oncology D’Or, genetic and familial factors contribute to about 10% of all breast cancer cases. There are at least 15 genes that have been linked to an increased risk of developing breast cancer, with BRCA1 and BRCA2 being the most common. Some mutations in these genes can increase a person’s lifetime risk of developing breast cancer by up to 80%.

Current guidelines state that not every woman, or even every breast cancer patient, needs genetic testing. Factors such as family history, age at diagnosis, and tumor characteristics are taken into account when determining the necessity of testing.

In Brazil, genetic tests for breast cancer are not readily available through the public healthcare system. Private health insurance plans only cover testing for patients under 35 who demonstrate clear evidence of a hereditary component. However, the cost of these tests has significantly decreased in recent years. While a single mutation test used to cost around R$10,000 a decade ago, a genetic panel that evaluates multiple genes can now be done for approximately R$2,000.

Doctors and patients alike advocate for expanding testing criteria and making the resulting data accessible through public healthcare services. The knowledge gained from genetic testing can make a significant difference in how women with these mutations are treated and monitored.

In conclusion, the “Angelina Jolie Effect” has shed light on the challenges faced by women with breast cancer-related gene mutations over the past ten years. Women like Evelin Scarelli and Joana Guimares have navigated the complexities of their diagnoses and found strength in openly discussing their conditions. As the understanding of genetic mutations continues to evolve, it is vital to expand testing criteria and ensure that all women have access to genetic testing and the necessary support and resources for managing their risk of breast cancer.