Li‑Fraumeni Syndrome (LFS; Heritable TP53‑related cancer syndrome) — Comprehensive Disease Characteristics Research Report

1. Disease Information

Overview / definition

Li‑Fraumeni syndrome (LFS) is a classical, highly penetrant hereditary cancer predisposition syndrome characterized by early onset cancers and an unusually broad tumor spectrum, most commonly driven by germline pathogenic variants in TP53. (giovino2024newparadigmsin pages 2-4, sanchezheras2023seomclinicalguideline pages 1-2)

Because many TP53‑associated cancer presentations do not meet “classic” LFS family-history patterns, European and national guidelines describe a broader umbrella entity, heritable TP53‑related cancer syndrome (hTP53rc). (sanchezheras2023seomclinicalguideline pages 1-2, frebourg2020guidelinesforthe pages 1-2)

Key identifiers (available from retrieved sources)

• MONDO: The user-specified MONDO:0018875 corresponds to “Li‑Fraumeni syndrome”; the identifier appears as MONDO_0018875 in OpenTargets-derived association output. (frebourg2020guidelinesforthe pages 1-2)
• Other identifiers (OMIM, Orphanet, ICD‑10/ICD‑11, MeSH): Not retrieved in the accessible full texts during this run; should be added from OMIM/Orphanet/MeSH as a curation step outside the included sources.

Synonyms / alternative names

• SBLA syndrome (“Sarcoma, Breast, Leukemia, and Adrenal Gland syndrome”) is cited as an alternative name for LFS in a recent review. (hosseini2024currentinsightsand pages 1-4)
• Heritable TP53‑related cancer syndrome (hTP53rc) is used in guidelines to encompass “attenuated” and non-classical presentations. (sanchezheras2023seomclinicalguideline pages 1-2, frebourg2020guidelinesforthe pages 1-2)

Evidence type notes

This report synthesizes aggregated disease-level resources (international/national guidelines, systematic reviews, cohort penetrance analyses, genome-first biobank studies) and human clinical research (cfDNA surveillance proof-of-principle; MRI surveillance studies) rather than EHR-only single-institution datasets. (fortuno2024cancerrisksassociated pages 1-2, temperley2024wholebodymriscreening pages 11-13, wong2024earlycancerdetection pages 1-3, andrade2024genomefirstapproachof pages 2-3)

2. Etiology

Disease causal factors

Genetic etiology (primary): heterozygous germline pathogenic/likely pathogenic variants in TP53 cause LFS/hTP53rc. (sanchezheras2023seomclinicalguideline pages 1-2, frebourg2020guidelinesforthe pages 1-2)

De novo variants: de novo TP53 variants are estimated at ~7–20% of cases in ERN GENTURIS guidance, supporting testing even without strong family history. (frebourg2020guidelinesforthe pages 1-2)

Risk factors

• Family history and early onset cancers are key clinical flags for testing and diagnosis, but reliance on family history alone misses de novo and “attenuated” presentations. (giovino2024newparadigmsin pages 2-4, frebourg2020guidelinesforthe pages 1-2)
• Iatrogenic/exposure-related risk amplification: Radiotherapy and conventional genotoxic chemotherapies contribute to subsequent primary tumors in TP53 carriers; guidance emphasizes TP53 testing before treatment to minimize these exposures where possible. (frebourg2020guidelinesforthe pages 1-2)

Protective factors

No proven licensed chemopreventive agents exist for LFS/hTP53rc in current standard care; chemoprevention is an active research area. (dixonzegeye2024cancerprecisionpreventiontrial pages 1-2)

Gene–environment interactions

• Treatment-related mutational processes: Whole-genome tumor studies in germline TP53 carriers report mutational signatures associated with prior chemotherapy and other genotoxin exposures (e.g., cisplatin and bacterial genotoxin signatures), consistent with environmental/treatment modifiers of tumor evolution. (light2023germlinetp53mutations pages 6-7)
• Modifier biology: Multiple genetic polymorphisms and epigenetic regulators are proposed to modify age at onset and phenotype, implying a complex GxE landscape. (gargallo2020li–fraumenisyndromeheterogeneity pages 2-4, gargallo2020li–fraumenisyndromeheterogeneity pages 7-8)

3. Phenotypes

Core tumor spectrum (clinical phenotypes)

Guidelines and reviews consistently describe a “core” LFS tumor spectrum that includes: - Premenopausal/early-onset breast cancer - Soft tissue sarcoma - Osteosarcoma - Central nervous system (CNS) tumors - Adrenocortical carcinoma (ACC) (sanchezheras2023seomclinicalguideline pages 1-2, frebourg2020guidelinesforthe pages 1-2)

Rare/highly suggestive tumors for TP53 testing include choroid plexus carcinoma, hypodiploid ALL, anaplastic embryonal rhabdomyosarcoma, SHH medulloblastoma, and jaw osteosarcoma. (sanchezheras2023seomclinicalguideline pages 1-2, frebourg2020guidelinesforthe pages 4-5)

Age of onset / natural history

• LFS is marked by early-onset cancers across childhood and adulthood, with diagnostic criteria explicitly using early ages (e.g., core cancers <46 years in modified Chompret). (sanchezheras2023seomclinicalguideline pages 2-4)
• Penetrance is high and age-dependent, with sex differences driven largely by early breast cancer risk in females. (fortuno2024cancerrisksassociated pages 1-2)

Frequencies / quantitative phenotype risks (recent)

• In a large maximum-likelihood pedigree analysis (146 TP53-positive families; 4,028 individuals), the cumulative risk of any cancer by age 50 was 92.4% in females and 59.7% in males; female breast cancer risk by age 50 was 63.3%. (fortuno2024cancerrisksassociated pages 1-2)

Quality of life impact

Quality-of-life impact is primarily mediated by repeated screening, follow-up of incidental findings, anxiety, and (in pediatrics) sedation requirements for MRI-based surveillance. (temperley2024wholebodymriscreening pages 11-13, kumamoto2021medicalguidelinesfor pages 1-2)

Suggested HPO terms (examples; not exhaustive)

Tumor phenotypes (HPO broadly): - Breast carcinoma — HP:0003002 - Soft tissue sarcoma — HP:0100242 - Osteosarcoma — HP:0006731 - Brain neoplasm — HP:0004375 - Adrenocortical carcinoma — HP:0006746 Additional TP53-associated rare tumors: - Choroid plexus carcinoma — HP:0030858 - Acute lymphoblastic leukemia — HP:0006728

4. Genetic / Molecular Information

Causal gene(s)

• TP53 is the principal causal gene for LFS/hTP53rc. (sanchezheras2023seomclinicalguideline pages 1-2, frebourg2020guidelinesforthe pages 1-2)

Pathogenic variant features and classification considerations

• TP53 variants include missense, nonsense, splice-site, frameshift, and others; missense variants in the DNA-binding domain are common and may exert dominant-negative effects (mutant monomers inactivate wild-type monomers) and/or gain-of-function activities. (hosseini2024currentinsightsand pages 1-4, gargallo2020li–fraumenisyndromeheterogeneity pages 2-4)
• Variant interpretation in blood must consider clonal hematopoiesis (CHIP) and mosaicism; the SEOM guideline notes that VAF ~40–50% supports germline origin, while VAF 10–40% suggests mosaicism and requires confirmation in non-lymphoid tissues to exclude CHIP/ctDNA. (sanchezheras2023seomclinicalguideline pages 2-4)

Population prevalence (genome-first)

A large genome-first analysis across EHR-linked cohorts (414,824 individuals) found prevalence estimates that depend on cohort selection and potential CH confounding: - UK Biobank (after excluding hematologic cancers): ~1:10,438 - Geisinger (after excluding hematologic cancers): ~1:3,790 - PMBB (after excluding hematologic cancers): ~1:2,983 (andrade2024genomefirstapproachof pages 2-3, andrade2024genomefirstapproachof pages 3-4)

Modifier genes / variants (evidence and examples)

A heterogeneity-focused review summarizes evidence that age of onset can be modified by polymorphisms including: - MDM2 SNP309 (G allele associated with earlier tumor onset) - TP53 PIN3 polymorphism (heterozygotes associated with earlier onset) - TP53 p.Pro72Arg polymorphism (Arg allele associated with earlier onset) (gargallo2020li–fraumenisyndromeheterogeneity pages 2-4)

Epigenetic/noncoding regulators (candidate modifiers) include multiple miRNAs (e.g., miR‑34 family) and lncRNAs (e.g., Wrap53), as well as telomere shortening and other factors. (gargallo2020li–fraumenisyndromeheterogeneity pages 7-8)

Epigenetic information

Mechanistic reviews propose that altered regulation of TP53 expression via miRNAs/lncRNAs and DNA methylation pathways may contribute to intrafamilial variability. (gargallo2020li–fraumenisyndromeheterogeneity pages 7-8)

5. Environmental Information

Environmental and lifestyle factors

Direct, quantitative environmental risk factors for cancer incidence in TP53 carriers were not established in the retrieved primary sources. However, guideline and mechanistic literature emphasize minimizing iatrogenic radiation exposure (diagnostic CT/mammography where alternatives exist, and radiotherapy where feasible) due to subsequent primary tumor risk. (frebourg2020guidelinesforthe pages 1-2, sanchezheras2023seomclinicalguideline pages 4-6)

Infectious agents

No infectious causal agent is implicated for LFS; it is a genetic predisposition syndrome.

6. Mechanism / Pathophysiology

Causal chain (high-level)

1. Germline TP53 pathogenic variant reduces normal p53 tumor suppressor function (via LOF and/or dominant-negative effects; some variants may have GOF properties). (gargallo2020li–fraumenisyndromeheterogeneity pages 2-4)
2. Cells experience impaired DNA damage response, cell-cycle checkpoint control, and apoptosis/ferroptosis-related tumor suppression programs, enabling malignant transformation. (gargallo2020li–fraumenisyndromeheterogeneity pages 2-4, vanikova2024functionalanalysisof pages 67-70)
3. A frequent early tumorigenic step is a “second hit” at TP53: tumor and fibroblast data show early TP53 loss-of-heterozygosity (LOH) and copy-number gain of the mutant allele, occurring years before diagnosis and earlier than in sporadic cancers with somatic TP53 alterations. (light2023germlinetp53mutations pages 1-2, light2023germlinetp53mutations pages 6-7)
4. Additional recurrent somatic alterations accumulate in pathways such as Wnt, PI3K/AKT, epigenetic modifiers, and homologous recombination genes, shaping tumor type and evolution. (light2023germlinetp53mutations pages 1-2)

Recent molecular profiling developments (2023–2024)

• Whole-genome analyses indicate near-ubiquitous early TP53 LOH with gain of the mutant allele as a characteristic process in LFS tumorigenesis. (light2023germlinetp53mutations pages 1-2, light2023germlinetp53mutations pages 6-7)
• Liquid biopsy (multiomic cfDNA) has emerged as a candidate adjunct surveillance strategy (see §10). (wong2024earlycancerdetection pages 1-3)

Suggested ontology terms

GO Biological Process (examples): - DNA damage response, signal transduction by p53 class mediator — GO:0030330 - Regulation of apoptotic process — GO:0042981 - Cell cycle arrest — GO:0007050 - Regulation of transcription by RNA polymerase II — GO:0006357

CL cell types (examples relevant to cancers in spectrum): - Hematopoietic stem cell — CL:0000037 - Epithelial cell (breast) — CL:0000066 - Osteoblast — CL:0000062 - Glial cell — CL:0000121

UBERON anatomical structures (examples): - Breast — UBERON:0000310 - Brain — UBERON:0000955 - Adrenal gland cortex — UBERON:0002367 - Bone — UBERON:0002481

7. Anatomical Structures Affected

LFS/hTP53rc is a systemic predisposition affecting multiple organ systems due to ubiquitous TP53 function; clinically, tumors commonly arise in breast, bone/soft tissues, CNS, and adrenal cortex. (sanchezheras2023seomclinicalguideline pages 1-2, frebourg2020guidelinesforthe pages 1-2)

8. Temporal Development

• Onset: often pediatric to young-adult onset, with surveillance recommended from birth in high-risk contexts. (sanchezheras2023seomclinicalguideline pages 4-6, frebourg2020guidelinesforthe pages 4-5)
• Course: lifelong predisposition with frequent multiple primaries; one guideline estimates ~half of cases develop synchronous/metachronous multiple cancers. (kumamoto2021medicalguidelinesfor pages 1-2)

9. Inheritance and Population

Inheritance

LFS is typically autosomal dominant. (dixonzegeye2024cancerprecisionpreventiontrial pages 1-2, kumamoto2021medicalguidelinesfor pages 1-2)

Epidemiology (recent quantitative data)

• Genome-first cohorts suggest prevalence on the order of ~1:10,000 in a population cohort (UK Biobank) and ~1:3,000 in health-system cohorts after attempts to reduce clonal hematopoiesis confounding. (andrade2024genomefirstapproachof pages 2-3, andrade2024genomefirstapproachof pages 3-4)

Penetrance / expressivity

• Penetrance is high and sex-dependent; in the Fortuno et al. pedigree analysis, cumulative any-cancer risk by age 50 reached 92.4% (females) and 59.7% (males). (fortuno2024cancerrisksassociated pages 1-2)
• Variable penetrance and expressivity are influenced by variant class (e.g., dominant-negative effects) and modifying factors. (frebourg2020guidelinesforthe pages 1-2, gargallo2020li–fraumenisyndromeheterogeneity pages 2-4)

10. Diagnostics

Clinical criteria (testing indications)

The SEOM guideline specifies modified Chompret testing indications, including early-onset core cancers, multiple primaries, and specific rare pediatric tumors; it also recommends testing after a second primary tumor arising in a prior radiotherapy field following an early core tumor. (sanchezheras2023seomclinicalguideline pages 2-4)

Genetic testing approach

• Germline TP53 testing is recommended promptly when LFS/hTP53rc is suspected; testing should ideally occur before initiating radiotherapy/genotoxic chemotherapy. (kumamoto2021medicalguidelinesfor pages 1-2, frebourg2020guidelinesforthe pages 1-2)
• Low VAF TP53 findings in blood should prompt confirmation in non-lymphoid tissue to address mosaicism/CHIP. (sanchezheras2023seomclinicalguideline pages 2-4, andrade2024genomefirstapproachof pages 6-7)

Screening / surveillance (real-world implementation)

Guidelines emphasize MRI/ultrasound-based surveillance. A SEOM guideline-derived schedule is summarized in the artifact below (children vs adults, imaging intervals). (sanchezheras2023seomclinicalguideline pages 4-6)

Whole-body MRI evidence (2024 update): A 2024 systematic review/meta-analysis pooling eight studies (506 carriers) found a pooled WB‑MRI cancer detection rate of 7% (95% CI 5–10%) and 36/506 (7.1%) new cancers diagnosed. (temperley2024wholebodymriscreening pages 11-13, temperley2024wholebodymriscreening pages 9-11)

Harms/limitations: WB‑MRI can yield incidental lesions and anxiety, lacks universal protocol standardization, and lacks cost-effectiveness evaluation in included studies. (temperley2024wholebodymriscreening pages 11-13)

Emerging diagnostics: multiomic cfDNA “liquid biopsy”

A 2024 Cancer Discovery report describes multimodal cfDNA (targeted sequencing, shallow WGS, methylation) in TP53 carriers under Toronto Protocol surveillance. It reports multimodal performance metrics (PPV/NPV) and examples of detection months-to-years before clinical diagnosis (e.g., methylation signal ~20 months before osteosarcoma), supporting liquid biopsy as a potential adjunct to annual imaging. (wong2024earlycancerdetection pages 1-3, wong2024earlycancerdetection pages 9-11, wong2024earlycancerdetection pages 8-9)

Clinical trials / ongoing studies (selected)

• SIGNIFY (NCT01737255; completed): observational case-control of whole-body and brain MRI in adult TP53 carriers vs controls; included psychological outcomes. (NCT01737255 chunk 1)
• WB‑MRI screening in LFS and other syndromes (NCT02950987; active not recruiting): single-group interventional study assessing annual return/retention over four annual scans and cancer detection tabulation. (NCT02950987 chunk 1)
• Pediatric imaging trait study (NCT03176836; enrolling by invitation): evaluates imaging traits (STIR/DWI, PET‑MRI conditional) to support imaging–phenotype analyses in children. (NCT03176836 chunk 1)
• TP53/LFS biobank with ctDNA aims (NCT04367246; recruiting): prospective biospecimen and clinical data collection with ctDNA utility endpoints. (NCT04367246 chunk 1)

11. Outcome / Prognosis

Surveillance-associated outcomes

The SEOM guideline reports that Toronto Protocol surveillance improved 5‑year survival (88% vs 59.6%). (sanchezheras2023seomclinicalguideline pages 2-4)

Multi-cancer risk and subsequent malignancies

Guidelines emphasize risk of multiple primaries and treatment-related subsequent primaries, motivating radiation-sparing management and lifelong surveillance. (frebourg2020guidelinesforthe pages 1-2, kumamoto2021medicalguidelinesfor pages 1-2)

12. Treatment

Core management principle

LFS is a cancer predisposition syndrome rather than a single tumor entity; treatment is cancer-type specific, but management is strongly influenced by TP53 carrier status.

Special considerations (authoritative guidance)

• Avoid or minimize radiotherapy and conventional genotoxic chemotherapy when feasible because of risk of subsequent primary tumors; perform TP53 testing before treatment initiation when possible. (frebourg2020guidelinesforthe pages 1-2)

Preventive / risk-reducing interventions

• Risk-reducing bilateral mastectomy is discussed as an option for women (decision individualized). (sanchezheras2023seomclinicalguideline pages 4-6, kumamoto2021medicalguidelinesfor pages 1-2)

Suggested MAXO terms (examples): - Cancer surveillance — MAXO:0000535 - Whole-body magnetic resonance imaging — MAXO:0001064 (imaging procedure) - Prophylactic mastectomy — MAXO:0001103 - Genetic counseling — MAXO:0000079

Experimental / emerging interventions (2023–2024)

• Metformin chemoprevention trial (MILI): A randomized, open-label phase II trial protocol randomizes 224 adults with LFS to oral metformin plus annual MRI surveillance vs surveillance alone; primary endpoint is 5-year cumulative cancer-free survival. (dixonzegeye2024cancerprecisionpreventiontrial pages 1-2)
• CHEBI: metformin — CHEBI:6801

13. Prevention

Primary/secondary prevention

• Secondary prevention is central: guideline-based surveillance beginning as soon as carrier status is known and continuing lifelong, using WB‑MRI, brain MRI, and (women) breast MRI; in children, frequent physical exams and abdominal/pelvic ultrasound for ACC surveillance. (sanchezheras2023seomclinicalguideline pages 4-6, frebourg2020guidelinesforthe pages 4-5)

Radiation avoidance

• Mammography and CT should be minimized when MRI/ultrasound alternatives exist; radiotherapy avoidance is recommended where feasible. (sanchezheras2023seomclinicalguideline pages 4-6, frebourg2020guidelinesforthe pages 1-2)

14. Other Species / Natural Disease

No naturally occurring “Li‑Fraumeni syndrome” diagnosis in non-human species was retrieved from the accessed texts. Mechanistic conservation of TP53 biology is strong across vertebrates, and TP53-driven tumor predisposition is widely modeled experimentally (see §15).

15. Model Organisms

Model systems (evidence retrieved)

• Human carrier-derived cell models: Primary fibroblasts from TP53 germline variant carriers can undergo spontaneous TP53 LOH and mutant allele copy gain in culture, with high mutant p53 accumulation after LOH. (light2023germlinetp53mutations pages 6-7)
• Mouse models: Reviews describe Tp53 mutant knock-in hotspot alleles (e.g., R172H) as models for mutant-p53 biology including ferroptosis pathway interactions, and transposon-based mouse systems show altered tumor latency in the setting of germline Tp53. (vanikova2024functionalanalysisof pages 67-70, levine2021spontaneousandinherited pages 1-2)

Applications and limitations

• These models are used to study (i) timing and selection of the second TP53 hit, (ii) pathway co-drivers, and (iii) surveillance biomarkers (e.g., cfDNA signals). Tumor spectrum and penetrance in specific engineered mouse alleles are not fully detailed in the retrieved full texts and should be supplemented from dedicated model-organism resources (MGI/IMSR) for knowledge base completeness.

Recent developments (2023–2024) — focused highlights

1. Refined penetrance estimates addressing ascertainment bias (2024): Maximum-likelihood pedigree modeling across 146 TP53 families provides updated, age- and sex-specific risk estimates and extends elevated risks to additional cancers (e.g., colorectal, gastric, lung, pancreatic, ovarian). (fortuno2024cancerrisksassociated pages 1-2)
2. Genome-first prevalence differences and clonal hematopoiesis confounding (2024): Large biobank analyses show cohort-dependent prevalence estimates (~1:3,000 in health-system cohorts vs ~1:10,000 in UK Biobank after excluding hematologic cancers) and recommend careful VAF/tissue confirmation. (andrade2024genomefirstapproachof pages 2-3, andrade2024genomefirstapproachof pages 6-7)
3. Whole-body MRI evidence synthesis (2024): Meta-analysis confirms ~7% pooled cancer detection on WB‑MRI but highlights incidental findings, protocol non-standardization, and missing cost-effectiveness evidence. (temperley2024wholebodymriscreening pages 11-13)
4. Multiomic cfDNA for early detection (2024): Multimodal liquid biopsy in TP53 carriers provides PPV/NPV estimates and case examples with ctDNA/methylation/fragmentation signals preceding conventional detection, supporting development of adjunct screening strategies. (wong2024earlycancerdetection pages 1-3, wong2024earlycancerdetection pages 9-11)
5. Chemoprevention trial initiation (2024): MILI evaluates metformin as a prevention agent alongside annual MRI surveillance in adults with LFS. (dixonzegeye2024cancerprecisionpreventiontrial pages 1-2)

Evidence tables (for knowledge base population)

Table: This table compiles the main recent quantitative findings for Li-Fraumeni syndrome / heritable TP53-related cancer syndrome, including penetrance, prevalence, surveillance performance, and emerging liquid-biopsy metrics. It is useful as a quick reference for comparing risk estimates and screening yield across recent guidelines and studies.

Table: This table summarizes when to test for TP53 under modified Chompret and related criteria, and the main surveillance schedule for children and adults with heritable TP53-related cancer syndrome. It is useful as a guideline-oriented reference for diagnosis, cascade testing, and radiation-sparing surveillance planning.

Visual evidence (WB‑MRI study summary)

A per-study summary table of whole-body MRI studies and detection rates from the 2024 systematic review/meta-analysis is available for visual corroboration. (temperley2024wholebodymriscreening media bbec6272)

Notes on gaps vs template requirements

• OMIM/Orphanet/ICD/MeSH identifiers, detailed tumor-type–specific incidence beyond the retrieved penetrance/surveillance metrics, and extensive real-world treatment outcome statistics were not present in the retrieved full texts and would require targeted database lookups and additional primary literature retrieval.
• Animal model details (specific allele tumor spectra, strain backgrounds, penetrance curves) are only partially supported by the retrieved sources and should be complemented with MGI/IMPC resources for full knowledge base completeness.

References

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13. (frebourg2020guidelinesforthe pages 4-5): T. Frébourg, Svetlana Bajalica Lagercrantz, Carla Oliveira, R. Mágenheim, D. Evans, Nicoline Marjolijn Marleen Rianne Rolf Gareth Emma Marc Eam Hoogerbrugge Ligtenberg Kets Oostenbrink Sijmons E, N. Hoogerbrugge, M. Ligtenberg, M. Kets, R. Oostenbrink, R. Sijmons, G. Evans, E. Woodward, M. Tischkowitz, E. Maher, R. Ferner, S. Aretz, I. Spier, V. Steinke-Lange, E. Holinski-Feder, E. Schröck, T. Frébourg, C. Houdayer, C. Colas, P. Wolkenstein, V. Bours, E. Legius, B. Poppe, K. Claes, R. de Putter, I. Guillermo, G. Capellá, J. B. Vidal, C. Lázaro, J. Balmaña, H. S. Hernández, Carla Oliveira, M. Teixeira, S. Bajalica-Lagercrantz, E. Tham, J. Lubiński, K. Ertmańska, B. Melegh, M. Krajc, A. Blatnik, S. Peltonen, and M. Hietala. Guidelines for the li–fraumeni and heritable tp53-related cancer syndromes. European Journal of Human Genetics, 28:1379-1386, May 2020. URL: https://doi.org/10.1038/s41431-020-0638-4, doi:10.1038/s41431-020-0638-4. This article has 372 citations and is from a domain leading peer-reviewed journal.

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31. (temperley2024wholebodymriscreening media bbec6272): Hugo C. Temperley, Niall J. O’Sullivan, Benjamin M. Mac Curtain, Wanyang Qian, Tatiana S. Temperley, Alannah Murray, Alison Corr, Ian Brennan, David Gallagher, James F. Meaney, and Michael E. Kelly. Whole-body mri screening for carriers of germline tp53 mutations—a systematic review and meta-analysis. Journal of Clinical Medicine, 13:1223, Feb 2024. URL: https://doi.org/10.3390/jcm13051223, doi:10.3390/jcm13051223. This article has 5 citations.