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


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

When Angelina Jolie announced in 2013 that she had breast reduction surgery due to her high breast cancer risk, the news made headlines throughout the world. Her decision to undergo surgery was a result of her carrying a genetic mutation in the BRCA1 gene, which significantly increased her chances of developing breast cancer. This revelation sparked a global conversation about genetic testing, risk assessment, and preventive measures for women with the same mutation.

One of these women is Evelin Scarelli. At the age of 23, she was diagnosed with breast cancer. It was a shocking discovery for someone so young and with no apparent symptoms. Scarelli stumbled upon the lump by chance during a routine self-examination. Initially, doctors dismissed it as a benign nodule or something less serious, given her age. However, further testing confirmed that she had an invasive carcinoma.

Approximately two years after Scarelli’s diagnosis, her mother was also diagnosed with breast cancer. This prompted medical professionals to recommend genetic testing for both mother and daughter. Given the family history of the disease and the fact that her maternal grandfather had died from peptic ulcer cancer, it was crucial to determine if there was a genetic mutation involved. The test results confirmed that both women had mutations in the BRCA2 gene, which significantly increased their risk of developing breast cancer.

The timing of their genetic testing coincided with Angelina Jolie’s public announcement about her own genetic mutation in the BRCA1 gene. Jolie’s decision to undergo preventive surgeries, including breast and ovary removal, highlighted the importance of genetic testing and risk assessment for women with a family history of breast cancer. It became known as the “Angelina Jolie effect,” as it sparked a rush of women seeking genetic testing and considering preventive measures.

Scarelli, now 35 years old and a mother of a 2-year-old boy, acknowledges the challenges she has faced over the past decade and a half. She has had to make difficult decisions about her cancer treatment, her health monitoring, and even the direction of her personal and family life. Initially, there was a stigma surrounding genetic mutations, and Scarelli felt compelled to keep her condition a secret. Society was not ready to understand and support women with these mutations. However, she now feels more at ease discussing her genetic mutation openly.

Joana Guimares*, who also carries the BRCA2 mutation, shares a similar experience. She has not been diagnosed with breast cancer but discovered the mutation after a close family member was diagnosed and had a recurrence of the disease. Guimares’s family history of breast cancer was extensive, with her grandmother and several aunts being diagnosed at a young age. The genetic test revealed that she had inherited the mutation, increasing her risk of developing breast cancer.

The medical community emphasizes the importance of genetic testing in cases where there is a strong family history of breast cancer. Dr. Rodrigo Guindalini of Oncology D’Or explains that about 10% of breast cancer cases are linked to genetic and familial factors. However, not every woman or patient with breast cancer needs to undergo genetic testing. Certain criteria, such as family history, age at diagnosis, and tumor characteristics, are considered when determining the need for genetic testing.

In Brazil, genetic tests for breast cancer are not yet covered by the public healthcare system. They are only covered by health insurance plans for patients under 35 who can provide clear evidence of a hereditary component. However, the cost of these tests has significantly decreased in recent years. Previously, a single mutation test cost around R$10,000, but now a genetic panel evaluating several genes costs approximately R$2,000.

Doctors and patients alike advocate for expanding testing criteria and making the resulting data available through the National Health Service (SUS). The knowledge gained from genetic testing can greatly impact the treatment and monitoring of women with these mutations. It allows for better risk assessment and enables healthcare providers to offer personalized preventive strategies.

In conclusion, the “Angelina Jolie effect” has raised awareness about genetic mutations and breast cancer. Women like Evelin Scarelli and Joana Guimares* have faced unique challenges due to their genetic mutations. The importance of genetic testing and risk assessment cannot be understated, as it allows for early detection, personalized treatment plans, and preventive measures. It is crucial to expand testing criteria and make genetic testing more accessible to all women at risk, ensuring a future where breast cancer-related gene mutations no longer pose significant difficulties.