Question: How many people are affected by Li-Fraumeni syndrome ?
Answer: The exact prevalence of Li-Fraumeni is unknown. One U.S. registry of Li-Fraumeni syndrome patients suggests that about 400 people from 64 families have this disorder.
Source: GHR

Question: What are the genetic changes related to Li-Fraumeni syndrome ?
Answer: The CHEK2 and TP53 genes are associated with Li-Fraumeni syndrome. More than half of all families with Li-Fraumeni syndrome have inherited mutations in the TP53 gene. TP53 is a tumor suppressor gene, which means that it normally helps control the growth and division of cells. Mutations in this gene can allow cells to divide in an uncontrolled way and form tumors. Other genetic and environmental factors are also likely to affect the risk of cancer in people with TP53 mutations. A few families with cancers characteristic of Li-Fraumeni syndrome and Li-Fraumeni-like syndrome do not have TP53 mutations, but have mutations in the CHEK2 gene. Like the TP53 gene, CHEK2 is a tumor suppressor gene. Researchers are uncertain whether CHEK2 mutations actually cause these conditions or are merely associated with an increased risk of certain cancers (including breast cancer).
Source: GHR

Question: Is Li-Fraumeni syndrome inherited ?
Answer: Li-Fraumeni syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing cancer. In most cases, an affected person has a parent and other family members with cancers characteristic of the condition.
Source: GHR

Question: What are the treatments for Li-Fraumeni syndrome ?
Answer: These resources address the diagnosis or management of Li-Fraumeni syndrome: - Gene Review: Gene Review: Li-Fraumeni Syndrome - Genetic Testing Registry: Li-Fraumeni syndrome - Genetic Testing Registry: Li-Fraumeni syndrome 1 - Genetic Testing Registry: Li-Fraumeni syndrome 2 - MedlinePlus Encyclopedia: Cancer - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR