ICO finds genetic mutation in Roma women that increases their susceptibility to breast cancer

ICO finds genetic mutation in Roma women that increases their susceptibility to breast cancerMANU MITRU

Mother Marie Carmen, The latter’s 46-year-old neighbor San Roc district in Badalonadied from mammary cancer. Two of her aunts also suffered from the disease. “We were told it was possible genetic problem. In 2012 I took a genetic test and said: positive result for BRCA1 gene mutation”, says Marie Carmen. In 2021, a tumor was discovered in her breast, and, realizing her reality, she decided to have both removed. Because having a mutation of this gene is practically sentence to suffer from breast cancer: Women suffering from this disease experience up to 80% chance of developing a tumor and even 40% to arrest ovarian cancer. This also applies to men, although to a lesser extent: they have up to 6% possibilities of suffering mammary cancer And 20% prostate cancer.

He Catalan Institute of Oncology (ICO) There is evidence that the BRCA1 gene mutation is much more common among the gypsy population, like Marie Carmen, than in the general population. In 2022, the ICO launched a project in the Sant Roc area of ​​Badalona, ​​home to around 14,000 people, most of whom are Roma, to test whether hypothesis that I saw him in recent years Counsell’s Genetic Division: that a mutation of this gene, closely linked to breast cancer, is more common in gypsies than in “payos”.

Prevalence in the general population is less than 0.1%. Until now, it was known that this mutation occurs much more frequently, for example, in Ashkenazi Jewish Community: they have 1% opportunities to possess it. Actress Angelina Jolie is of Jewish descent. decided to take the course double mastectomy knowing that she knew about the BRCA1 gene mutation and her high chances of developing breast cancer.

“In 2022, we launched these genetic screening in the gypsy community, hand in hand with CAP Saint Rockbased on the idea that there is potential to prevent the disease,” he says. Ares Solanesa genetic consultant at the ICO’s Genetics Council. The research team proposed screening (the test involves scraping the mouth) 400 people. Two years later, they were able to carry out these tests on 274 people of the Roma ethnic group and see that only 10, or one, 3.7% of people were examinedthey gave positive for BRCA1 gene mutation.

“That’s a very large number, a much higher percentage than the general population or the Jewish population,” Solanes says. Although the project is not yet complete and 126 people still need to be tested, the researchers believe the preliminary results are significant and compelling enough to take that reality into account. “We may be facing a paradigm shift,” Solanes says. These tests are destined to become early diagnostic tool in this community.

Why is the incidence rate so high?

The name BRCA comes from the first two letters of the word ‘mammary cancer’, what does breast cancer mean in english. There are two types of BRCA genes: BRCA1 And BRCA2, and both suppress cancerous tumors. However, when they mutate, they do not do so as they should, and therefore people with mutations in these genes are at risk. increased risk of developing cancer. As Solanes explains, the BRCA1 gene mutation exists in the general population, but it is more common. in “some populations”.

Ashkenazi Jews, for example, that “they usually do not have offspring with people who do not belong to the community.” Also, some communities of South America. And now that ICO is being analyzed, also people of gypsy nationality.

Thus, a higher frequency of occurrence of this genetic mutation is associated with “geographical history” community itself. “The fact that the gypsy population has this mutation more often is due to the historical fact that they come from India. A thousand years ago, they began to leave the country, traveled through Europe until they arrived in Spain 600 years ago,” explains Solanes. They spread throughout Spain, and although their history is marked by nomadism, the truth is that upon arrival in the country, this population became more sedentary.

“The fact that they were so numerous in India and that later a small group migrated and multiplied in other geographical areas formed genetic effect “It’s called a ‘bottleneck.’ That is, from a large population, a small part of it reproduces again, and some of its characteristics (for example, in this case, the BRCA1 gene mutation) become more common, although this was not the case at first,” the genetic consultant adds.

The problem of attracting patients

The genetic screening carried out by ICO in the Roma community would not be possible without the work of the primary health care centre. (CAP) San Roque de Badalona. The challenge was to “downgrade” a major oncology hospital in Catalonia, which treats 60% of all adult cancers and provides all the genetic knowledge, to a health centre that provides social knowledge. It is the primary care workers of this CAP, so deeply rooted in Sant Roque, who attract patients to these examinations. “It was a total and absolute challenge,” he admits. Judith Isaaca nurse at the KAP. “The word ‘cancer’ can’t be said because they think it’s a way to attract disease,” explains Isak.

She acts as an intermediary between the patients she cares for and the genetic counseling clinic set up by the ICO in this CAP, which opens its doors freely every Wednesday to anyone who wants to come in. Often, the patient is accompanied to the consultation by Isah herself, a trusted person in the community. They represent a project called “Gypsy Health”

. They have made videos of community patients like Mari Carmen inviting others to get tested. And they have set up information stands in local markets. Because the goal of these displays is to establish a presence among the Roma community. “There was a generation that died from this disease. We want them to either not have it or to be diagnosed early so they survive,” conclude Isah and Solanes.