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Li-Fraumeni Syndrome (LFS) is a rare, inherited disorder which leads to a higher risk of developing certain cancers. These cancers tend to occur at younger ages in patients with LFS than in the general population. The types of tumors most frequently seen in LFS include bone and soft tissue cancers (called sarcomas), breast cancer, brain tumors, and cancer of the adrenal gland. The diagnosis of LFS is based on an individual’s personal and family history of cancer. Inherited disease-causing changes in a gene called TP53 is currently the only known cause of LFS. About 70% of families with a clinical diagnosis of LFS have these genetic changes.
To efficiently study the medical, genetic, psychological, and social functioning of LFS patients requires a large number of affected and unaffected family members. To establish such a resource, the Clinical Genetics Branch (CGB), part of the National Cancer Institute (NCI) with the National Institutes of Health (NIH), joined with researchers from around the world to form the Li-Fraumeni Exploration (LiFE) Research Consortium. In support of both the LiFE consortium and its own research program, CGB is conducting a detailed study of individuals with LFS and their family members, based at the NIH/NCI in Bethesda, MD.
In August 2016, our LFS team reported on cancer incidence from our NCI cohort in the journal Cancer. Read the paper online: "Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort."
In this publication, we presented our findings from 286 individuals with TP53 mutations who enrolled in our study since it opened in 2011. We examined the cancer risk by gender as well as by specific cancer site. We observed that by age 31, 50% of females had developed cancer; for males it was by age 36. By age 70, nearly 100% of both males and females had developed some type of cancer.
Approximately 49% of those with one cancer developed at least one other cancer after 10 years. Our findings confirm the cancer risk in TP53 mutation carriers is very high, but varies by age, sex, and cancer type. Further research is needed to better inform personalized risk management for these individuals.
View additional highlights on the Research Highlights page.