What is Li-Fraumeni syndrome

Li-Fraumeni syndrome is a rare genetic disorder that predisposes individuals to a higher risk of developing various types of cancer. It is caused by mutations in the TP53 gene, which normally acts as a tumor suppressor by preventing the growth of abnormal cells. However, in individuals with Li-Fraumeni syndrome, this gene is faulty, leading to an increased susceptibility to cancer.

People with Li-Fraumeni syndrome have a significantly higher chance of developing several types of cancer throughout their lifetime, including breast cancer, brain tumors, sarcomas, leukemia, and adrenal gland tumors. The age of onset for these cancers is often earlier than in the general population.

Li-Fraumeni syndrome is typically inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated TP53 gene from either parent to develop the syndrome. However, in some cases, the mutation can occur spontaneously.

Due to the increased cancer risk associated with Li-Fraumeni syndrome, individuals with a family history of the disorder should consider genetic counseling and regular screenings to detect cancer at its earliest stages. Early detection and proactive management can significantly improve outcomes for those affected.