LFS is a rare hereditary condition that increases a person's risk over time for a wide spectrum of tumours. In LFS, the tendency to develop cancer is often inherited, meaning that it can be passed from an affected parent to a child. Occasionally, LFS can result from a new gene mutation, without having parents affected or a family history of cancer.
LFS is characterized by the onset of malignancies at a young age and the predisposition to develop multiple different types of cancer, and often multiple cancers, and multiple tumors over a lifetime. Cancers associated with LFS include adrenocortical cancer, brain tumors, soft tissue sarcomas, osteosarcomas, rhabdomyosarcoma, breast cancer, leukemia, lymphoma and glioblastoma. Many other cancers have also been seen in LFS families, often occurring at younger ages than seen in the general population.
The lifetime risk for a person with LFS to develop any type of cancer is about 90%. Approximately 50% of these cancers will be diagnosed before age 30, and 40% will be diagnosed during childhood. However, some people with LFS will never develop cancer. LFS is most commonly caused by a gene mutation in the p53 tumour suppressor gene. Approximately 70% of families with LFS will have a p53 mutation. The mutation takes away the gene’s ability to function correctly.
Just how rare is it?
LFS is relatively rare. When LFS was first identified estimates suggested less than 400 families had LFS worldwide, however, with advances in screening during the past ten years more families with LFS have been identified. Now, LFS is believed to be as frequent as one in 5,000 to one in 20,000 in certain populations in the world.
While the diagnosis of LFS is often overwhelming, it is vital that patients be aware of the disorder to enable them to seek out the best possible treatments. Since patients with LFS often develop cancers at an early age, regular cancer screenings are very important. The best outcomes for patients are often the results of early detection and treatment.