It’s more effective to test for rare syndrome that facilitates cancer than just treating the disease, study says

In 13 years, economist Regis Feitosa Mota, 52, from Fortaleza (CE), and his three children had 11 cancer diagnoses associated with a hereditary syndrome little investigated in Brazil.

The drama began in 2009, when the eldest daughter, Ana Carolina, then 12 years old, was diagnosed with acute lymphoblastic leukemia, the most common cancer in childhood, which starts in the bone marrow. Today, Ana is a doctor and is treating a new tumor, this time in the brain.

In 2016, Mota discovered chronic lymphocytic leukemia, and in 2021, non-Hodgkin’s lymphoma, a type of cancer that originates in the cells of the lymphatic system. He currently treats both diseases.

Also in 2016, the middle child, Pedro, then 17 years old, was diagnosed with an osteosarcoma, a bone tumor, in his leg. In the following four years, the young man would have four more tumors (lung, thoracic spine, lumbar spine and brain) until he died in 2020.

In 2017, the youngest of the family, Beatriz, was diagnosed with acute lymphoblastic leukemia at age 11. She died a year later. Leukemias start in the bone marrow, when white blood cells start to develop in excess and stop performing their correct function, which is to protect the body against viruses, bacteria, among other dangers.

“Despite all these problems, life is really worth living. It’s very complicated to live with the absence of children, but I try to work on that inside me, that we’re all just passing through”, says the economist, Catholic, and who has more than 18 thousand followers on Instagram.

The Mota’s tragedy has a scientific explanation: the family carries a mutation in the TP53 gene that predisposes them to develop early and frequent cancers.

A recent study by the Hospital Sírio-Libanês published in the journal The Lancet Regional Health–Americas, showed that it is more effective for the SUS to carry out genetic tests and screening tests to identify who has this mutation than to just treat all the tumors that these people go to. have throughout life.

Called Li-Fraumeni (LFS), this syndrome is rare, but in Brazil there is a higher prevalence compared to the rest of the world. Brazilian carriers of LFS have a specific mutation (R337H) in a stretch of DNA that carries the recipe for the production of the P53 protein.

This protein, dubbed the “guardian of the genome”, has the main function of preventing DNA copying errors that lead to the emergence of cancer. Without it, the body loses one of its main defenses and there is a greater chance of tumor formation.

Studies with more than 150,000 newborn children in the South and Southeast of Brazil found that the prevalence in these regions is 0.3% of the population, that is, about one in 300 people have the mutation.

In other countries, data on the prevalence of the mutation range from one in 5,000 people to one in 20,000.

The problem is that this syndrome is not always recognized and, therefore, preventive measures that could lead to earlier discovery and treatment of tumors are not adopted. Regis and his children, for example, were only diagnosed with the syndrome in 2016, seven years after the first case of cancer in the family.

“Until then, we thought that it could have been a coincidence that Ana Carolina had it in 2009 and I had it in early 2016. But with Pedro’s diagnosis, we began to suspect some genetic issue”, says Mota. The economist’s father and mother are over 80 and have never had cancer. His brothers don’t carry the mutation.

The study compared two groups of FHL carriers: half under surveillance strategies with the exams and the other half without such follow-up. Considering costs and gains in years of life, the follow-up strategy for early cancer detection was 64% more effective for women and 45% for men, compared to the non-surveillance strategy.

“It is much cheaper for the Brazilian government [testar e acompanhar] than having to pay for surgeries, chemotherapy and radiotherapy, in addition to the loss of these people’s healthy years and lives”, says geneticist Maria Isabel Achatz, a researcher at Sírio-Libanês and one of the authors of the study.

The worldwide protocols for monitoring the syndrome include tests such as whole-body magnetic resonance imaging, colonoscopy and endoscopy from the age of 25. In Sírio, 420 people with the syndrome are currently being followed up.

According to the doctor, despite the high incidence of the syndrome, Brazil does not offer genetic testing to investigate the mutation. The idea is to change that. Thus, a patient who has breast cancer at age 30, for example, would be a candidate to be tested for this particular mutation.

From there, your family would be investigated, which may include parents, siblings, children, cousins. As it is a hereditary mutation, identifying a person within the family can be a warning for everyone, according to the doctor.

Each direct family member has a 50% risk of having inherited the same genetic change.