{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Castillo D"],"funding":["Breast Cancer Research Foundation","NIH Cancer Center Support Grant","NCI NIH HHS","NIH"],"pagination":["1621-1629"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9866580"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["31(8)"],"pubmed_abstract":["<h4>Background</h4>Though germline TP53 pathogenic/likely pathogenic variants (PV) are associated with Li-Fraumeni syndrome, many detected by multigene panels represent aberrant clonal expansion (ACE), most due to clonal hematopoiesis (CH). Discerning ACE/CH from germline variants and postzygotic mosaicism (PZM) is critically needed for risk assessment and management.<h4>Methods</h4>Participants in the Li-Fraumeni &amp; TP53 Understanding &amp; Progress (LiFT UP) study with a TP53 PV were eligible. Demographics, personal/family cancer history, and clinical laboratory test reports were obtained. DNA from multiple tissues was analyzed using a custom QIAseq assay (ACE panel) that included TP53 and other CH-associated genes; the ACE panel and eyebrow follicles were assessed in a workflow to di"],"journal":["Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology"],"pubmed_title":["Clonal Hematopoiesis and Mosaicism Revealed by a Multi-Tissue Analysis of Constitutional TP53 Status."],"pmcid":["PMC9866580"],"funding_grant_id":["RC4 CA153828","P30 CA033572","grant nos.20–172","R01 CA242218","U19 CA203654"],"pubmed_authors":["Mokhnatkin J","Yang K","Slavin TP","Ebert BL","Cervantes A","Weitzel JN","Amos CI","Hyman S","Garber JE","Tsang KK","Nehoray B","Herzog J","Castillo D","Sand SR","Schwartz A","Yuan TA"],"additional_accession":[]},"is_claimable":false,"name":"Clonal Hematopoiesis and Mosaicism Revealed by a Multi-Tissue Analysis of Constitutional TP53 Status.","description":"<h4>Background</h4>Though germline TP53 pathogenic/likely pathogenic variants (PV) are associated with Li-Fraumeni syndrome, many detected by multigene panels represent aberrant clonal expansion (ACE), most due to clonal hematopoiesis (CH). Discerning ACE/CH from germline variants and postzygotic mosaicism (PZM) is critically needed for risk assessment and management.<h4>Methods</h4>Participants in the Li-Fraumeni &amp; TP53 Understanding &amp; Progress (LiFT UP) study with a TP53 PV were eligible. Demographics, personal/family cancer history, and clinical laboratory test reports were obtained. DNA from multiple tissues was analyzed using a custom QIAseq assay (ACE panel) that included TP53 and other CH-associated genes; the ACE panel and eyebrow follicles were assessed in a workflow to di","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2026-05-27T22:41:22.812Z","creation":"2025-02-19T04:21:04.05Z"},"accession":"S-EPMC9866580","cross_references":{"pubmed":["35654360"],"doi":["10.1158/1055-9965.epi-21-1296","10.1158/1055-9965.EPI-21-1296"]}}