Apparently Heterozygous TP53 Pathogenic Variants May Be Blood-Limited in Patients Undergoing Hereditary Cancer Panel Testing

Heterozygous (HET) TP53 pathogenic variants (PV) are associated with Li-Fraumeni syndrome (LFS), a dominantly inherited condition causing high risk for sarcoma, breast, and other cancers. Recent reports have described patients without features of LFS and apparently HET TP53 PV in blood cells but not fibroblasts (FB), suggesting the variant occurred sporadically during hematopoiesis and rose to high allele fraction through clonal expansion. To explore possible clonal hematopoiesis in patients undergoing hereditary cancer testing, FB testing was performed for patients with apparently HET or mosaic TP53 PV identified in blood, oral rinse, or buccal specimens via next-generation sequencing panels.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Tags: Regular Article Source Type: research