Patient presentations with a Li-Fraumeni syndrome diagnosis through different ascertainment methods: a case series

Li-Fraumeni syndrome is a well characterized cancer syndrome with high risk of multiple types of cancers. However, little is known about etiology of TP53 variants when patients are ascertained through genomic screening versus cancer clinics. This case series analyzes the personal and family histories of patients diagnosed with a TP53 pathogenic or likely pathogenic variant in order to add to the descriptive literature surrounding patients with TP53 variants of suspected somatic etiology, likely due to clonal hematopoiesis of indeterminate potential (CHIP). Retrospective chart reviews were performed on twenty-two patients, ascertained through a cancer clinic and a genomic screening program. Results indicate patients over the age of sixty with limited personal and family history have variants suggestive of somatic etiology due to CHIP or mosaicism and may benefit from confirmatory or cascade genetic testing.M.S.Includes bibliographical reference