Li-Fraumeni syndrome synonyms

Li-Fraumeni syndrome is a rare genetic disorder that predisposes individuals to a wide range of cancers. It is also known by several other names, including:

• Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome: This name highlights the specific types of cancers commonly associated with Li-Fraumeni syndrome. Sarcomas, breast cancer, leukemia, and adrenal gland tumors are among the most frequently observed malignancies in affected individuals.


• TP53-related cancer predisposition syndrome: This name emphasizes the underlying genetic cause of Li-Fraumeni syndrome. The condition is caused by mutations in the TP53 gene, which plays a crucial role in regulating cell growth and preventing the formation of tumors.


• Hereditary p53 mutation syndrome: This name highlights the hereditary nature of the disorder and the specific mutation in the p53 gene that leads to its development. The p53 gene is responsible for producing a protein that helps suppress the growth of tumors.


• Multiple primary and familial cancers: This name reflects the characteristic feature of Li-Fraumeni syndrome, which is the increased risk of developing multiple primary cancers over a lifetime. Additionally, the syndrome tends to run in families, indicating a familial predisposition to cancer.

Li-Fraumeni syndrome is typically inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated TP53 gene from either parent to develop the syndrome. Individuals with Li-Fraumeni syndrome have a significantly higher risk of developing various cancers at an early age compared to the general population.

It is important for individuals with Li-Fraumeni syndrome and their families to undergo regular cancer screenings and genetic counseling to manage their increased cancer risk. Early detection and intervention can greatly improve outcomes for affected individuals.