Genetic mutation makes Roma women vulnerable to breast cancer

Genetic mutation makes Roma women vulnerable to breast cancer

Mari Carmen’s mother, 46, who lives in the Sant Roque de Badalona neighborhood, died of breast cancer. Her two aunts also had the disease. “In 2012, I did a genetic test and it came back positive for the BRCA1 gene mutation,” Mari Carmen explains. In 2021, she was diagnosed with a tumor in her breasts and, knowing her reality, decided to have them removed. Because having this genetic mutation is a sentence: women who have it, throughout their lives, have an 80% chance of developing breast cancer and a 40% chance of developing colon cancer. It also affects men, although it is less dangerous: they have a 6% chance of developing breast cancer and a 20% chance of developing prostate cancer.

The Catalan Institute of Oncology (ICO) has data indicating that the BRCA1 gene mutation is more common in Roma populations, such as Mari Carmen, than in the general population. In 2022, the ICO started a project in the Sant Roc neighbourhood, which has a large Roma population, to verify whether the hypothesis that the Genetic Counselling Unit had seen in recent years was confirmed: that the mutation of this gene, a disease closely linked to breast cancer, was indeed more common in the Roma population than in Bayos. The prevalence rate in the general population is less than 0.1%. Until now it was known that this mutation was more common, for example, in the Ashkenazi Jewish community: they have a 1% chance of having it. The actress Angelina Jolie, of Jewish origin, decided to have a double mastectomy 11 years ago when she discovered the BRCA1 mutation.

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“In 2022, we launched these genetic tests in the Roma community, with CAP Sant Roc, based on the idea that there was a possibility of preventing the disease,” explains Aris Solanis, genetic counsellor of the ICO’s genetic counselling unit. The research team began by screening 400 people (the test consists of a mouth scraping). Two years later, they had already screened 274 Roma people, and found that a total of 10 people, or 3.7% of those screened, tested positive for the BRCA1 gene mutation. “This percentage is much higher than in the general population or among Jews,” notes Solanis. Although the project is not yet complete, the researchers believe that the initial results are revealing enough to take this reality into account. “We may be facing a paradigm shift,” says Solanis. These tests are designed to become an early diagnostic tool in this community.

Why are there more cases?

The name BRCA comes from the first two letters of breast cancer. There are two BRCA genes, BRCA1 and BRCA2, both of which suppress malignant tumors. However, when they mutate, they don’t do it as they should, so people with mutations in these genes are more likely to develop cancer. As Solanis explains, the BRCA1 gene mutation is present in the general population, but is more prevalent in “certain populations”: Ashkenazi Jews, who “don’t tend to have offspring from people outside the community”; as well as some South American communities; and now, as the ICO is analyzing, also people of the Roma ethnic group.

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As it is, this major occurrence of this genetic mutation is linked to the “geographic history” of the community itself. “A thousand years ago, the Roma population began to leave India and made a journey through Europe until they reached Spain 600 years ago, where they became more settled,” explains Solanis. “The fact that there were so many of them in India and then a small group moved and reproduced in other geographical areas created a genetic effect called a bottleneck. That is, from a large population, a small part reproduces and some of them have their own characteristics.” [com en aquest cas la mutació del gen BRCA1] “It’s become more frequent, even though it wasn’t at first,” the genetic counselor continues.

Attracting patients

These genetic tests carried out by the ICO in the Roma community would not have been possible without the work of the Primary Care Centre (CAP) of Sant Roc de Badalona. The challenge was to “downgrade” the activity of the major oncology hospital in Catalonia to a health centre. The health workers at the CAP primary school, deeply rooted in Sant Roc, are the ones who attract patients to these tests. “It has been a complete and absolute challenge,” admits Judith Isaac, a care nurse at the CAP. “You can’t say the word cancer because they think it’s a way to attract the disease,” Isaac explains.

She acts as an intermediary between the patients she treats and the genetic counseling clinic set up by the ICO in CAP, which opens its doors freely every Wednesday to anyone who wants to come in. They have created videos in which patients like Mari Carmen, from the community, invite others to get tested. They have also set up information stands in the neighborhood’s street markets. The goal of these shows is to stabilize the Roma community. “A generation has died from this disease,” Isaac and Solanes conclude. “We want them not to get it or to be diagnosed early so they can survive.”

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