https://orcid.org/0000-0001-9036-7604
-
Views
-
Cite
Cite
Christina M Lockwood, Commentary on Liquid Biopsy Detection of a TP53 Variant in a “Disease-Free” Pediatric Patient with a History of TP53-Mutant Adrenocortical Carcinoma, Clinical Chemistry, Volume 71, Issue 1, January 2025, Page 29, https://doi.org/10.1093/clinchem/hvae171
Close - Share Icon Share
Extract
In oncology, the intersection between germline and somatic sequencing is pivotal: germline testing can reveal hereditary cancer risk, while somatic testing can direct cancer therapy, guide diagnosis, and aid disease monitoring. Somatic tumor molecular profiling uses sensitive, high-throughput technologies like next-generation sequencing to simultaneously interrogate many genes and identify tumor-specific alterations. Most somatic profiling tests are performed on tumor tissue only, which is a limitation because variants cannot be unambiguously assigned as inherited or somatic.
The introduction of plasma cell-free DNA (cfDNA) tests can potentially transform clinical care across the cancer evolution spectrum. A challenge in detecting variants in peripheral blood cfDNA is that they are derived from multiple sources. For example, cfDNA variants that are not tumor-acquired can reflect blood cell expansion in clonal hematopoiesis of indeterminate potential as well as leukocyte and healthy tissue-derived alterations either present in all cells (germline variant) or only some cells (mosaic variant).
