Unveiling the Impact: A Decade of the ‘Angelina Jolie Effect’ on Women with Breast Cancer-Related Gene Mutations

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

When Angelina Jolie made the decision to undergo breast reduction surgery in 2013 due to her high risk of breast cancer, the news reverberated across the globe. Her brave choice not only shed light on the realities of having a genetic mutation predisposing individuals to breast cancer, but it also highlighted the challenges faced by women who carry this mutation.

One such woman is Evelin Scarelli, who was diagnosed with breast cancer at the young age of 23. She had no symptoms and nothing to raise suspicion until one day she happened to touch her breast and felt something strange. Her initial appointments dismissed the possibility of a tumor due to her young age, with some even suggesting it may be a benign fat nodule or something less serious.

However, two years after her diagnosis, Scarelli received shocking news: her mother also had breast cancer. This prompted medical professionals to recommend genetic testing for both Scarelli and her mother. The results confirmed their suspicion – both women had mutations in the BRCA2 gene, which significantly increases the risk of developing breast cancer.

The significance of genetic testing for breast cancer came into the global spotlight when Angelina Jolie publicly announced her own genetic mutation in the BRCA1 gene in 2013. Her decision to undergo preventative surgeries to reduce her risk of developing breast and ovarian cancer inspired many women around the world to consider their own options.

For Scarelli, the decade and a half since her cancer diagnosis has been filled with numerous challenges. She has had to make shared decisions with her medical team regarding her treatment, health monitoring, and even the direction of her personal and family life. However, Scarelli also highlights the social and emotional challenges faced by women with genetic mutations.

“I was advised not to tell anyone about my mutation because society wasn’t ready to listen,” Scarelli recalls. “For many years, I lived in secrecy, dealing with the fact that I was in a limbo – I no longer have cancer, but I can’t be declared medically cured because of the mutation I carry.”

Scarelli believes that discussing her mutation openly is essential, but she acknowledges that not all women have the privilege to do so due to workplace relationships or financial constraints.

Another woman, Joana Guimares, also carries a BRCA2 mutation but has never been diagnosed with breast cancer. Her decision to undergo genetic testing was prompted by a family history of breast cancer, including her grandmother and several of her mother’s aunts. The test revealed that Guimares had indeed inherited the mutation.

Genetic testing for breast cancer mutations is not readily available through Brazil’s public healthcare system, and private health insurance plans only cover it for patients under 35 who can provide clear evidence of a hereditary component. However, the cost of these tests has significantly dropped over the years, making it more accessible to individuals.

Currently, there are at least 15 genes linked to an increased risk of developing breast cancer, with BRCA1 and BRCA2 being the most common. However, not every woman or 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 the necessity of testing.

Doctors and patients in Brazil advocate for expanding testing criteria and making the resulting data available through the National Health Service. The knowledge gained from genetic testing can have a profound impact on how women with these mutations are treated and monitored.

In conclusion, the “Angelina Jolie Effect” has brought attention to the challenges faced by women with breast cancer-related gene mutations. It has sparked conversations surrounding genetic testing and the importance of early detection and prevention. While there are still barriers to accessing genetic testing in Brazil, efforts are being made to expand testing criteria and make it more accessible to at-risk individuals. Increasing awareness and understanding of genetic mutations associated with breast cancer can ultimately save lives and improve outcomes for affected women.

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