ICARE Newsletter Spring 2022 

 Li-Fraumeni Syndrome and Cancer Risks 

A new study reported on differences in the TP53 mutations between patients who met vs those who did not meet Li-Fraumeni Syndrome (LFS) testing criteria. Several variants were identified multiple times in those who did and did not meet LFS clinical criteria: p.R175, p.G245, p.R248, p.R273, and p.R282. Other variants were exclusively found in those in the LFS group: p.M133T, p.P152L, p.C275Y, p.C275, p.R337C, p.R342, and p.R342P. One variant was exclusively found in patients with attenuated (meaning less cancers seen) LFS: p.R110L. Those who met LFS genetic testing criteria were more likely to have early adrenal, brain, connective tissue, and bone tumors; in contrast, those who did not meet the criteria were more likely to have breast and other cancers (including lung, ovarian, kidney, and pancreatic cancers), with almost half of the cancers occurring after the age of 45.

Kratz, et al. JAMA Oncol. 2021 Dec. PMID: 34709361. Social media post December 21st, 2021. Available at: https://tinyurl.com/post122121.

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