ArticleCancer genetics2022
Evolution of germline TP53 variant classification in children with cancer.
Article in Cancer genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 9 citations in OpenAlex.
- Effectiveness of a Local Drug Delivery System Based on Antimicrobial Peptides in Early Treatment of Peri-implantitis.International dental journal · 2025Article
- Case Report: Pathological confirmation and aggressive postoperative recurrence of WHO grade III rhabdoid meningioma.Frontiers in medicine · 2025Article
- Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach.Cancers · 2024Review
- Variant reclassification and recontact research: A scoping review.Genetics in medicine open · 2024Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Li-Fraumeni syndrome, caused by germline pathogenic variants in TP53, results in susceptibility to multiple cancers. Variants of uncertain significance (VUS) and reclassification of variants over time pose management concerns given improved survival with cancer surveillance for LFS patients. We describe the experience of TP53 variant reclassification at a pediatric cancer center.
methodsWe reviewed medical records (2010-2019) of 756 patients seen in Texas Children's Cancer Genetics Clinic. We noted initial TP53 classification and any reclassifications. We then classified TP53 variants following ClinGen TP53 variant curation expert panel recommendations using data from ClinVar, medical literature and IARC database.
resultsOf 234 patients tested for TP53, 27 (11.5%) reports contained pathogenic/likely pathogenic (P/LP) variants and 7 (3)% contained VUS. By January 2022, 4 of 6 unique VUS and 2 of 16 unique P/LP variants changed interpretations in ClinVar. Reinterpretation of these 4 VUS in ClinVar matched clinical decision at the time of initial report. Applying TP53 VCEP specifications classified 3 VUS to P/LP/benign, and one pathogenic variant to likely benign.
conclusionsPlanned review of variant significance is essential, especially for patients with high probability of LFS.
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