Evidence map›Paper›PMID 40840234›Full record

ArticleESMO open2025

Li Fraumeni syndrome in the UK: clinical characteristics and outcomes of TP53 carriers.

E Finn, S Sardo Infirri, C S Clarke, C Bunce, J Y Weng, R W Lee, Z Kemp, T P McVeigh, R Eeles, A George

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Article in ESMO open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. Observational
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

E FinnRoyal Marsden Hospital NHS Foundation Trust, London, UK. Electronic address: elena.finn@nhs.net.
S Sardo InfirriRoyal Marsden Hospital NHS Foundation Trust, London, UK.
C S ClarkeResearch Department of Primary Care and Population Health, University College London, London, UK.
C BunceRoyal Marsden Hospital NHS Foundation Trust, London, UK.
J Y WengResearch Department of Primary Care and Population Health, University College London, London, UK.
R W LeeRoyal Marsden Hospital NHS Foundation Trust, London, UK; The Institute of Cancer Research, London, UK; National Heart and Lung Institute, Imperial College London, London, UK.
Z KempRoyal Marsden Hospital NHS Foundation Trust, London, UK; The Institute of Cancer Research, London, UK.
T P McVeighRoyal Marsden Hospital NHS Foundation Trust, London, UK.
R EelesRoyal Marsden Hospital NHS Foundation Trust, London, UK; The Institute of Cancer Research, London, UK.
A GeorgeRoyal Marsden Hospital NHS Foundation Trust, London, UK; The Institute of Cancer Research, London, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLi Fraumeni syndrome (LFS), a rare genetic condition, poses a significant health impact due to the ∼75%-90% lifetime risk of developing cancer in affected individuals. Due to the rarity of this disease, little is known about the outcomes, clinical characteristics, and treatments of cancer for patients with LFS. PATIENTS AND

methodsWe present a retrospective dataset of 57 patients from 41 families diagnosed with LFS between 1996 and 2021, with or without a concurrent cancer diagnosis, who were managed at a single cancer institution in the UK. We present the cancer types that were observed in this group, the age at cancer diagnosis, and treatment modalities for those affected with cancer, either before or after having a TP53 test to establish their LFS diagnosis.

resultsA total of 24 individuals underwent predictive testing, of which 13 were not diagnosed with cancer during the observation period. The other 33 individuals underwent diagnostic testing and had at least one cancer diagnosis each. Overall, there were 92 distinct cancer diagnoses in 44 participants, the majority being breast cancers and sarcomas. Patients were most likely to be diagnosed with LFS between the ages of 30 and 40 years. Some 75% of all cancer diagnoses were diagnosed at an early stage [TNM (tumour-node-metastasis) stage 0-2], and 19% had a recurrence, despite the early diagnosis. In total, 42% of individuals with LFS died as a result of a cancer diagnosis in our dataset, but the overall survival could not be calculated due to the short follow-up period (median 6 years, IQR 2-11 years).

conclusionsIndividuals with LFS have a high risk of cancer, cancer recurrence, and death. Larger multicentric international studies focusing on developing cohorts of specific diseases are needed to better understand disease patterns related to different pathogenic TP53 variants and inform which patients with LFS may need a more targeted and aggressive surveillance protocol.

Indexed as

Li-Fraumeni SyndromeTumor Suppressor Protein p53AdolescentAdultChildChild, PreschoolFemaleHeterozygoteHumansMaleMiddle AgedRetrospective StudiesUnited KingdomYoung AdultTP53 protein, humanTumor Suppressor Protein p53breast cancerearly diagnosiselectronic patient recordLi Fraumeni syndromesarcomascreeningservice evaluation

Identifiers

PMID40840234
PMCPMC12529301

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.