ArticleCancer genetics2024
Clinical management of TP53 mosaic variants found on germline genetic testing.
Article in Cancer genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Clinical efficacy of free gingival graft versus collagen matrix for peri-implant soft tissue augmentation: a systematic review and meta-analysis.Odontology · 2026Pooled it
- What's hidden in plain sight? Impact of clonal hematopoiesis on the risk and progression of nonhematologic cancers.Haematologica · 2026Review
- SCN3B is an Anti-breast Cancer Molecule with Migration Inhibition Effect.Biochemical genetics · 2026Article
- Mosaic Li Fraumeni Syndrome Not Identified in Germinal Tissue.Molecular genetics & genomic medicine · 2026Article
- Construction and validation of a multicenter predictive model for neonatal hypoglycemia risk in infants of mothers with gestational diabetes mellitus.American journal of translational research · 2026Article
- Resolve D1 promotions the repair of cornal epidemiological damage in diabetes by regulating epidemiological response and oxidative stress.Regenerative therapy · 2025Article
- Proposed framework for triage of putative germline variants detected via tumour genomic testing in UK oncology practice.Journal of medical genetics · 2025Article
- Clinical classification and molecular interpretation of germline pathogenic TP53 variations detected by multigene panel testing in patients with possible cancer predisposition.Molecular genetics and genomics : MGG · 2025Article
- PARInternational journal of molecular sciences · 2025Article
- Identification of the novel exhausted T cell CD8 + markers in breast cancer.Scientific reports · 2024Article
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
backgroundGermline heterozygous TP53 pathogenic variants (PVs) cause Li Fraumeni Syndrome (LFS, OMIM#151623). TP53 PVs at lower-than-expected variant allele frequencies (VAF) may reflect postzygotic mosaicism (PZM) or clonal hematopoiesis (CH); however, no guidelines exist for workup and clinical management. PATIENTS AND
methodsRetrospective analysis of probands who presented to an academic cancer genetics program with a TP53 PV result on germline genetic testing.
resultsTwenty-one of 125 unrelated probands (17 %) were found to harbor a TP53 PV with VAF<30 % or a designation of "mosaic". A diagnosis of PZM was made in nine (43 %) due to a clinical phenotype consistent with LFS with (n = 8) or without (n = 1) positive ancillary tissue testing. Twelve patients (57 %) were diagnosed with presumed CH (pCH) due to a diagnosis of a myeloproliferative neoplasm, negative ancillary tissue testing, clinical phenotype not meeting LFS criteria, no cancer, and/or no first cancer age<50. Of the 19 patients with biological offspring, nine had either partial or complete offspring testing, all negative.
conclusionsDetermining the etiology of low VAF TP53 PVs requires ancillary tissue testing and incorporation of clinical phenotype. Discerning PZM versus CH is important to provide optimal care and follow-up.
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