A doctor spoke about the impact of genetic breakdowns on children's cancer risk

The International Day of Children with Cancer is celebrated worldwide on February 15. Elena Korchagina, a geneticist and expert physician at the Hemotest laboratory, told Izvestia what genetic breakdowns can lead to the disease and what types of cancer are most common among children.

"Breakages in genes responsible for cell growth and division, repair of damaged DNA and apoptosis - programmed cell death - are responsible for the development of cancer. If mutations occur in these genes, cells begin to divide uncontrollably, becoming virtually immortal. Accumulating in the body, they form a malignant tumor," the doctor explained.

The most common types of cancer in children are leukemia (leukemia, or blood cancer), brain tumors, neuroblastoma (nerve cell tumor), nephroblastoma, or Wilms tumor (kidney tumor), retinoblastoma (retinal tumor).

According to the expert, the likelihood of leukemia is significantly higher in children with Down syndrome, Klinefelter (appearance of extra female chromosomes in boys), Wiskott-Aldrich (congenital immunodeficiency), as well as with Fanconi anemia - a rare hereditary disease that leads to malformations and malignant neoplasms.

Brain tumors can form in children with neurofibromatosis type I. This common genetic disease provokes the appearance of multiple neoplasms in the nervous system, skin, and internal organs. The type of inheritance of neurofibromatosis is autosomal dominant. This means that the child only needs to get one copy of the broken gene from the father or from the mother, Korchagina specified.

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At the same time, she said that neuroblastoma - a tumor of nerve cells - can be associated with mutations in the ALK and PHOX2B genes. The former is responsible for programmed cell death, while the latter is responsible for the proper maturation of nerve cells.

"Wilms tumor is a cancer of the kidney. Most cases of this disease are found in children between two and seven years of age, rarely in newborns. In about 60% of cases, the disease develops because of somatic (acquired) mutations - genetic breakdowns in any cells in the body other than the sex cells. In 40% - because of mutations inherited from parents," Korchagina added.

Retinoblastoma, a tumor of the retina, is almost always associated with breakdowns in the RB1 gene. The main task of this gene is to suppress the tumor process. Breakdowns in RB1 cause malignant cells to divide uncontrollably. In 80% of cases retinoblastoma is found in children under four years old, said the geneticist.

The expert emphasized that if there have already been cases of cancer or syndromes associated with cancer in the family, before planning a pregnancy, you should undergo genetic testing - its results will help to assess the risk of cancer in the child.

"It's also important for parents to monitor their baby's well-being. Red flags that can indicate the development of a malignant tumor are weakness, frequent colds, bone pain, headache in the morning, unexplained fever, rapid weight loss. If the child has such symptoms, it is important to take him to a doctor as soon as possible - the specialist will prescribe all the necessary tests and develop treatment tactics," - concluded the doctor.

Earlier, on February 4, it was reported that only half of the surveyed Russians are sure that they could find funds for paid treatment and rehabilitation, if a loved one faced oncology. Almost every sixth (17.2%) would give all their savings to save a loved one, according to the results of a survey by the insurance company Rosgosstrakh.