Study of TP53 Gene Variants and Li-Fraumeni Syndrome to Understand Cancer Risks and Improve Prevention

What this Trial Is About

Researchers are investigating variants in the TP53 gene linked to Li-Fraumeni Syndrome LFS, a hereditary condition that increases cancer risk, as well as TP53 variants found in blood for other reasons such as ACECHIP and mosaicism. This study aims to better estimate cancer risks associated with these variants to improve counseling, prevention, early detection, and treatment opportunities for affected individuals and their families. It also seeks to understand the significance of non-inherited TP53 variants in the blood. Participants may provide medical records and answer questionnaires periodically. Optional contributions include giving blood, saliva, eyebrow hair samples, and stored tumor tissue specimens. Participants may also invite family members to join. The study plans to enroll about 1500 people and will continue until it closes or participants withdraw consent. During the study, researchers will collect data and specimens, maintain a repository for up to five years or until study closure, and analyze cancer risks in TP53 mutation carriers. The study is observational, with no assigned treatments, and participants remain under their usual care. The National Cancer Institute partly funds the research and requires some genetic data to be shared anonymously with the research community.

Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress