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Is rhabdomyosarcoma genetic?

Published in Rhabdomyosarcoma Genetics 2 mins read

Rhabdomyosarcoma can sometimes be linked to genetics, but this is rare.

While most cases of rhabdomyosarcoma are not directly inherited, certain genetic syndromes can increase the risk. According to research, rarely, rhabdomyosarcoma has been linked to genetic syndromes that are passed from parents to children.

Genetic Syndromes Associated with Increased Risk

Specific genetic syndromes have been associated with a higher risk of developing rhabdomyosarcoma:

  • Neurofibromatosis 1
  • Noonan syndrome
  • Li-Fraumeni syndrome
  • Beckwith-Wiedemann syndrome
  • Costello syndrome

It is important to note that having one of these syndromes does not guarantee that a person will develop rhabdomyosarcoma; it simply increases the likelihood. Most people with these syndromes will not develop rhabdomyosarcoma.

Understanding Genetic Predisposition

The role of genetics in rhabdomyosarcoma is complex. While most cases are sporadic (not inherited), a small percentage are linked to inherited genetic syndromes. These syndromes involve mutations in specific genes that can increase cancer risk. For example, Li-Fraumeni syndrome is associated with mutations in the TP53 gene, a tumor suppressor gene. When this gene is not functioning correctly, it can increase the risk of various cancers, including rhabdomyosarcoma.

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