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6th Li Fraumeni Syndrome Association Symposium Convenes Researchers, Clinicians, and Patients

, by Maura Kate Costello, M.A.

Teens with Li Fraumeni Syndrome field questions from the audience of clinicians, researchers, and parents.

Teens with Li Fraumeni Syndrome field questions from clinicians, researchers, and parents.

The 6th International Li Fraumeni Syndrome Association (LFSA) Symposium was held at in Maryland October 13-16, 2022, at the NCI Shady Grove building and an area hotel; this was the first in-person meeting since the start of the COVID-19 pandemic. The symposium brings together researchers, clinicians, and patients to share and learn about advances in research and clinical management of individuals living with LFS from scientists, clinicians, and patients and families themselves. In collaboration with the Li Fraumeni Syndrome Association and the LiFE Consortium, the symposium was organized by Payal Khincha, M.B.B.S., M.S.H.S., assistant clinical investigator in the Clinical Genetics Branch (CGB) and principal investigator of the NCI LFS Study; Sharon Savage, M.D., chief of CGB and lead medical advisor of the study; and the invaluable support of the planning committee that included Dr. Joseph Fraumeni Jr., Judy Garber, David Malkin, Mone't Thompson, Jenn Perry, Debbie Soprano, Holly Fraumeni, Todd Tesseo. 

Researchers from the NCI LFS Study and collaborators around the world presented the latest developments in their work. Highlights of the presentations included the newly developed Li-Fraumeni Spectrum, which documents phenotypic variation among those that inherit a germline variant in TP53; distribution of variants in populations around the world and the effects of those variants beyond classical LFS; improvements in variant curation across genetic testing labs; cancer screening guidelines; targeted therapies, and much more. See the full agenda for more details. At least one scientist participating in the meeting was also an LFS patient who presented his research on at the poster session. 

Patient-focused Discussions 

In addition to the scientific talks, there were many events tailored to or moderated by patients. One such panel was dedicated to psychosocial research, where researchers shared their findings on the experience of LFS in adolescents and young adults, and in families, coping with complex health care needs, and mental health outcomes for youth with LFS. Daily breakout sessions provided opportunities for participants to meet in small groups to talk about managing grief and loss, medical decision making for genetic testing, navigating health insurance, and more. The Youth Panel, a favorite feature of these symposia, gave adolescents with LFS the opportunity to field questions from researchers, clinicians, and parents about their experience with LFS and how adults can best help them.  

Participants also had the opportunity to hear from Joseph F. Fraumeni, Jr., M.D., founding Director of DCEG, and Dr. Elaine Shiang, widow of Frederick Li. Dr. Fraumeni described the focus of cancer epidemiology in the 1960s—mostly on viral carcinogenesis. Dr. Khincha reflected, “The work of Dr. Fraumeni and Dr. Li was revolutionary, leading not only to their seminal publication in Annals of Internal Medicine but ushering in a new era of genetic epidemiology, the legacy of which continues today in DCEG and in research groups around the world.” Dr. Shiang shared her reflections on her late-husband’s life and discovery of LFS.  

Learn more about the LFS Study at the NCI.

Find patients resources and support with LFSA.



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