Li-Fraumeni syndrome

disorder

SNOMED 428850001CUI C0085390

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Li-Fraumeni Syndrome" from the MEDLINE/PubMed database.

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A systematic review of high-grade glioma associated with Li-Fraumeni syndrome.

[object Object], [object Object], [object Object] et al. · Neurosurg Rev · 2025

PMID: 40063153Meta-Analysis

Baseline surveillance in Li Fraumeni syndrome using whole-body MRI: a systematic review and updated meta-analysis.

[object Object], [object Object], [object Object] et al. · Eur Radiol · 2025

PMID: 39075300Meta-Analysis

Risk factors for secondary neoplasms in retinoblastoma survivors: a systematic literature review.

[object Object], [object Object], [object Object] et al. · Expert Rev Anticancer Ther · 2025

PMID: 40632082Meta-Analysis

Psychosocial interventions and needs among individuals and families with Li-Fraumeni syndrome: A scoping review.

[object Object], [object Object], [object Object] et al. · Clin Genet · 2022

PMID: 34355387Meta-Analysis

In search of TP53 mutational hot spots for Li-Fraumeni syndrome in Asian populations.

[object Object], [object Object], [object Object] et al. · Trop Med Int Health · 2021

PMID: 34478609Meta-Analysis

Families' and health care professionals' attitudes towards Li-Fraumeni syndrome testing in children: A systematic review.

[object Object], [object Object], [object Object] et al. · Clin Genet · 2019

PMID: 30191952Meta-Analysis

A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome?

[object Object], [object Object], [object Object] et al. · J Adolesc Young Adult Oncol · 2018

PMID: 30004834Meta-Analysis

Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome.

[object Object], [object Object], [object Object] · Hum Mutat · 2018

PMID: 30240537Meta-Analysis

Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis.

[object Object], [object Object], [object Object] et al. · JAMA Oncol · 2017

PMID: 28772291Meta-AnalysisFull text (PMC)

R337H mutation of the TP53 gene as a clinical marker in cancer patients: a systematic review of literature.

[object Object], [object Object] · Genet Mol Res · 2015

PMID: 26681051Meta-Analysis

Search all PubMed articles for Li-Fraumeni syndrome

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Cancer

Very frequent (80-99%)HP:0002664

Breast carcinoma

Frequent (30-79%)HP:0003002

Adrenocortical carcinoma

Occasional (5-29%)HP:0006744

Astrocytoma

Occasional (5-29%)HP:0009592

Blood cancer

Occasional (5-29%)HP:0001909

Cancer of lymphatic system

Occasional (5-29%)HP:0002665

Central primitive neuroectodermal tumor

Occasional (5-29%)HP:0030070

Choroid plexus carcinoma

Occasional (5-29%)HP:0030392

Colorectal polyps

Occasional (5-29%)HP:0200063

Ependymoma

Occasional (5-29%)HP:0002888

Gastric cancer

Occasional (5-29%)HP:0012126

GI tract tumour

Occasional (5-29%)HP:0007378

Glioblastoma

Occasional (5-29%)HP:0012174

Rhabdomyosarcoma

Occasional (5-29%)HP:0002859

Tumors of the central nervous system

Occasional (5-29%)HP:0100006

Acute lymphocytic leukemia

Very rare (1-4%)HP:0006721

Acute myeloid leukaemia

Very rare (1-4%)HP:0004808

Choriocarcinoma

Very rare (1-4%)HP:0100768

Colon cancer

Very rare (1-4%)HP:0003003

Head and neck tumour

Very rare (1-4%)HP:0012288

Hodgkin's lymphoma

Very rare (1-4%)HP:0012189

Hypoplastic myelodysplasia

Very rare (1-4%)HP:0002863

Lung tumor

Very rare (1-4%)HP:0100526

Medulloblastoma

Very rare (1-4%)HP:0002885

Melanoma

Very rare (1-4%)HP:0002861

Neoplasia of the kidneys

Very rare (1-4%)HP:0009726

Neoplasm of the larynx

Very rare (1-4%)HP:0100605

Non-Hodgkin lymphoma

Very rare (1-4%)HP:0012539

Ovarian neoplasm

Very rare (1-4%)HP:0100615

Pancreatic tumor

Very rare (1-4%)HP:0002894

Related Conditions

Familial neoplastic disease(parent)

Autosomal dominant hereditary disorder(parent)

Hereditary neoplastic syndrome(parent)

Quick Facts

SNOMED CT: 428850001
UMLS CUI: C0085390
Fully Specified Name: Li-Fraumeni syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.