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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 individuals 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 April 2018, the NCI LFS Study team will be participating in the 4th International LFS Association Symposium in Toronto, Canada. NCI LFS Study team members Payal Khincha, Renée Bremer, Kelvin de Andrade, Megan Frone, Leatrisse Oba, Jennifer Young, and Sharon Savage will be presenting posters and giving talks at the conference. Stay tuned for updates.
Congratulations to NCI LFS Study team members Dr. Wegman-Ostrosky and Mr. de Andrade who, along with Dr. Pedro Saint-Maurice, received the 2018 National Cancer Institute Director’s Intramural Innovation Award. Their application entitled, “Life-course physical activity associations with mitochondrial DNA copy number and cancer outcomes in Li-Fraumeni Syndrome” was accepted and fully funded in December 2017. This study will commence soon.
In August 2017, we published a report on the NCI LFS cohort’s prevalence of cancer at baseline screening in JAMA Oncology. The study team observed a higher than expected prevalence of cancer at baseline screening in individuals with LFS. Of the 116 study participants screened, 8 cancers were diagnosed and all but 1 were treated by resection only. Additional studies were required to further investigate 40 other abnormalities, 32 of which were not malignant, detected at time of screening, inferring a ~ 30% false-positive rate. This research shows the feasibility of a comprehensive cancer screening protocol for this high-risk population.
A meta-analysis, published in the same issue of JAMA Oncology, involved 578 participants with LFS in 13 cohorts at multiple research centers around the world. Similarly, utilizing rapid whole-body MRI, the investigators observed an overall detection rate of 7 percent for new primary cancers at baseline screening, confirming the results of the study conducted at NCI.
The published studies can be found on PubMed:
- Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort
- Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis
View additional highlights on the Research Highlights page.