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Ten years ago, one woman’s brave decision changed the way the world views breast cancer. In 2013, famous actress Angelina Jolie made headlines when she announced that she had undergone breast reduction surgery due to her high risk of breast cancer. This revelation became known as the “Angelina Jolie Effect” and sparked a global conversation about women with a breast cancer-related gene mutation.
One woman who knows the challenges of living with a breast cancer-related gene mutation is Evelin Scarelli. At the young age of 23, she was diagnosed with breast cancer. Despite having no symptoms, a routine check-up revealed a strange lump in her breast.
Initially, doctors dismissed the possibility of cancer due to her young age. However, further tests confirmed that Scarelli had an invasive carcinoma. This shocking diagnosis was followed by years of surgeries, chemotherapy, and radiation therapy. Then, she received even more shocking news – her mother also had breast cancer.
Given the family history of breast cancer and the fact that Scarelli’s maternal grandfather had died from peptic ulcer cancer, medical professionals recommended genetic testing for both mother and daughter. The results confirmed their suspicions – both women had mutations in the BRCA2 gene, which significantly increases the risk of developing breast cancer.
At that time, genetic testing for breast cancer had gained attention worldwide due to Angelina Jolie’s public disclosure of her own genetic mutation and subsequent surgeries. Scarelli, now 35 years old and a mother herself, reflects on her journey and the difficulties she has faced.
“When I found out about my mutation, I was advised not to tell anyone because society wasn’t ready to hear our stories,” Scarelli shares. “For many years, I stayed in the closet, dealing with the fact that I was in limbo – no longer having cancer, but unable to be discharged due to the mutation I carry.”
However, Scarelli feels more empowered now to openly discuss her genetic mutation. She understands that many women still face barriers, such as workplace discrimination or the financial costs of healthcare, which prevent them from doing the same.
Another woman, Joana Guimares*, chose to keep her identity anonymous due to her BRCA2 mutation. Although she has not been diagnosed with breast cancer, she discovered the mutation after her mother was diagnosed with breast cancer and experienced a recurrence. The extensive family history of breast cancer prompted genetic testing, and Guimares discovered that she had inherited the mutation.
Deciding to undergo genetic testing for breast cancer-related mutations can be a complex decision. Dr. Rodrigo Guindalini, an oncologist, explains that only around 10% of breast cancer cases are linked to genetic and familial factors. There are various genes associated with an increased risk of breast cancer, including BRCA1 and BRCA2.
Genetic testing is not universally recommended for all women or even all breast cancer patients. Factors such as family history, age at diagnosis, and tumor characteristics are considered when determining the need for testing.
In Brazil, genetic tests for breast cancer are not covered by the public healthcare system. However, the price of these tests has decreased significantly in recent years. While a single mutation test used to cost around R$10,000, a genetic panel that evaluates multiple genes can now be 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 increased access to genetic testing and information can greatly impact the treatment and monitoring of women with breast cancer-related gene mutations.
In conclusion, the “Angelina Jolie Effect” has shed light on the challenges faced by women with a breast cancer-related gene mutation. Individuals like Evelin Scarelli and Joana Guimares* have experienced firsthand the complexities and difficulties associated with living with these mutations. As technology advances and prices decrease, it is crucial to expand access to genetic testing and support services for all who may benefit from them.
