A man and his three children died of cancer: a rare hereditary syndrome provokes different types of tumors

Brazilian father who lost three children to cancer tragically dies from the same hereditary disease New York Post.

Photo: IStock

The family's youngest child, Beatrice, died of leukemia in 2018 at just 10 years old.

Son Pedro died of a brain tumor in 2020 at the age of 22, and daughter Anna Carolina died of a brain tumor in 2022 at the age of 25 after having previously beaten leukemia.

Regis Feitoza Mota, 53, was born with Li-Fraumeni syndrome, a condition that increases the chance of developing cancerous tumors.

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The lifetime risk of developing cancer is 70% for men and 90% for women. People with this disease may be affected by more than one cancer in their lifetime.

Régis was diagnosed with cancer three times between 2016 and 2023.

“We found another cancer,” he said at the time. “We have already treated lymphocytic leukemia and non-Hodgkin lymphoma, which have now stabilized.”

“But we are treating him, but he is not being treated,” he continued. “This time we discovered multiple myeloma, which even affects the bones.”

Mota revealed on social media last week that he was in the hospital awaiting a bone marrow transplant. However, he sadly died on August 13 in Ceará, Brazil on Father's Day in the South American country.

“Our warrior went to meet his children exactly on Father’s Day. May God take you to him, my brother! We love you so much,” Regis’ brother said.

“My friends, I never thought I would make this post,” wrote Mota’s wife, Mariella Pompeu. “I never prepared for this moment because I was always sure that Regis would make a full recovery.”

“The pain is indescribable,” she continued. “The earth has opened up and I don’t know what life will be like without his absolute love.”

Lee Fraumeni Syndrome

In the United States, according to the unified registry of patients with Li-Fraumeni syndrome, this pathology is present in 400 people from 64 families.

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A mutation in the TP53 gene is called Lee-Fraumeni syndrome. In 1969, it was first described by scientists from the National Cancer Institute in the United States, Frederick Lee and Joseph Fraumeni. This mutation significantly increases the risk of developing cancer at a young age: almost half of the people whose diagnoses Li and Fraumeni studied were diagnosed before the age of thirty. At the same time, a violation in the TP53 gene can lead to breast cancer, leukemia, brain cancer and various sarcomas.

About 70% of families with LFS have a mutation in the TP53 gene. The mutation makes the gene unable to function correctly. One of the main tasks of the TP53 gene is to prevent the formation of cancer. Cancer does not occur in all people with a TP53 gene mutation. However, the risks are significantly higher than those of the general population. It is most often diagnosed in children under the age of 2 years.

Because of the wide range of cancers that can affect children with Li-Fraumeni syndrome, it is difficult to predict which tumor will develop. It is also difficult to know when this will happen.

• It is estimated that half (30%) of all people with Li-Fraumeni syndrome will develop some form of cancer by the age of 50.
• By the age of 60, the likelihood of cancer in people with Li-Fraumeni syndrome rises to about 80-90%.
• People with Li-Fraumeni syndrome are more likely to develop multiple cancers.

If LFS is suspected, patients may have a blood sample taken for analysis. Analysis is always voluntary. During analysis, DNA is isolated from cells. The TP53 gene is then checked for possible errors (mutations). If a TP53 mutation is found, a genetic counselor will work with the family to see if other family members should be tested, reports (Together.

Currently, it is not possible to correct the SLF-associated TP53 mutation. Cancer resulting from this syndrome is usually curable. It is often recommended to avoid radiation whenever possible.

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