Many children with adrenocortical tumors (ACT) have a mutation (change) in TP53. TP53 is a gene, and everyone has it. You need it for normal cell function. TP53 makes a protein called p53 (also called tumor suppressor protein p53). Its most important job is to keep damaged cells from copying themselves. If a TP53 gene mutation affects p53’s ability to do this, damaged cells will copy themselves and the newly copied cells might not work correctly. In humans, TP53 mutations are among the most common gene changes related to cancer.
A child with ACT usually gets this mutation from one parent. If a child inherits this mutation, there is a 50 percent chance that the patient’s siblings (brothers and sisters) also have a TP53 mutation. A few children with ACT are the only people in their families with the TP53 mutation (de novo). Sometimes, TP53 mutations are only found in ACT tumor cells (somatic).
Scientists do not know yet exactly what genes are involved when children get ACT. There might be many different genes involved. They do know that about 2 of every 3 children with ACT have TP53 gene mutations. About a quarter of these children have a de novo mutation, while the other three-quarters have a mutation inherited (passed down) from parents.
TP53 is also involved in other cancers besides adrenocortical tumors, like breast, bone, soft tissue, and brain cancers as well as leukemia. Some people with a TP53 mutation have a family history of cancer and others do not. Your child’s doctor or genetic counselor will ask you about any cancer in your family members to get a better idea about a possible TP53 mutation in your family.
Families have many things in common, including their genes, environment, and lifestyle. A family medical history can tell your doctor if you or your child have an increased chance of developing certain conditions from a gene mutation. Having family members with a mutation does not mean you or your child will develop health problems from that mutation. Also, you can develop health problems without having the mutation.