Syndrome de Li-Fraumeni : Questions médicales fréquentes
Nom anglais: Li-Fraumeni Syndrome
Descriptor UI:D016864
Tree Number:C18.452.284.520
Termes MeSH sélectionnés :
Models, Statistical
{
"@context": "https://schema.org",
"@graph": [
{
"@type": "MedicalWebPage",
"name": "Syndrome de Li-Fraumeni : Questions médicales les plus fréquentes",
"headline": "Syndrome de Li-Fraumeni : Comprendre les symptômes, diagnostics et traitements",
"description": "Guide complet et accessible sur les Syndrome de Li-Fraumeni : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.",
"datePublished": "2024-01-23",
"dateModified": "2025-04-17",
"inLanguage": "fr",
"medicalAudience": [
{
"@type": "MedicalAudience",
"name": "Grand public",
"audienceType": "Patient",
"healthCondition": {
"@type": "MedicalCondition",
"name": "Syndrome de Li-Fraumeni"
},
"suggestedMinAge": 18,
"suggestedGender": "unisex"
},
{
"@type": "MedicalAudience",
"name": "Médecins",
"audienceType": "Physician",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "France"
}
},
{
"@type": "MedicalAudience",
"name": "Chercheurs",
"audienceType": "Researcher",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "International"
}
}
],
"reviewedBy": {
"@type": "Person",
"name": "Dr Olivier Menir",
"jobTitle": "Expert en Médecine",
"description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale",
"url": "/static/pages/docteur-olivier-menir.html",
"alumniOf": {
"@type": "EducationalOrganization",
"name": "Université Paris Descartes"
}
},
"isPartOf": {
"@type": "MedicalWebPage",
"name": "Troubles dus à un défaut de réparation de l'ADN",
"url": "https://questionsmedicales.fr/mesh/D049914",
"about": {
"@type": "MedicalCondition",
"name": "Troubles dus à un défaut de réparation de l'ADN",
"code": {
"@type": "MedicalCode",
"code": "D049914",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "C18.452.284"
}
}
},
"about": {
"@type": "MedicalCondition",
"name": "Syndrome de Li-Fraumeni",
"alternateName": "Li-Fraumeni Syndrome",
"code": {
"@type": "MedicalCode",
"code": "D016864",
"codingSystem": "MeSH"
}
},
"author": [
{
"@type": "Person",
"name": "Payal P Khincha",
"url": "https://questionsmedicales.fr/author/Payal%20P%20Khincha",
"affiliation": {
"@type": "Organization",
"name": "Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland."
}
},
{
"@type": "Person",
"name": "David Malkin",
"url": "https://questionsmedicales.fr/author/David%20Malkin",
"affiliation": {
"@type": "Organization",
"name": "Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, and Department of Pediatrics, University of Toronto, Toronto, Ontario."
}
},
{
"@type": "Person",
"name": "Sharon A Savage",
"url": "https://questionsmedicales.fr/author/Sharon%20A%20Savage",
"affiliation": {
"@type": "Organization",
"name": "Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland."
}
},
{
"@type": "Person",
"name": "Allison Werner-Lin",
"url": "https://questionsmedicales.fr/author/Allison%20Werner-Lin",
"affiliation": {
"@type": "Organization",
"name": "School of Social Policy and Practice, University of Pennsylvania, Philadelphia, PA."
}
},
{
"@type": "Person",
"name": "Maria Isabel Achatz",
"url": "https://questionsmedicales.fr/author/Maria%20Isabel%20Achatz",
"affiliation": {
"@type": "Organization",
"name": "Centro de Oncologia, Hospital Sirio-Libanes, Rua Dona Adma Jafet, 115 - Bela Vista, São Paulo, Brazil."
}
}
],
"citation": [
{
"@type": "ScholarlyArticle",
"name": "Stability of clinical prediction models developed using statistical or machine learning methods.",
"datePublished": "2023-07-19",
"url": "https://questionsmedicales.fr/article/37466257",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1002/bimj.202200302"
}
},
{
"@type": "ScholarlyArticle",
"name": "Net Reclassification Index Statistics Do Not Help Assess New Risk Models.",
"datePublished": "2022-11-15",
"url": "https://questionsmedicales.fr/article/36378029",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1148/radiol.222343"
}
},
{
"@type": "ScholarlyArticle",
"name": "Assessment of Neurological Impairment and Recovery Using Statistical Models of Neurologically Healthy Behavior.",
"datePublished": "2022-08-05",
"url": "https://questionsmedicales.fr/article/35932111",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1177/15459683221115413"
}
},
{
"@type": "ScholarlyArticle",
"name": "Development of Predictive Statistical Model for Gaining Valuable Insights in Pharmaceutical Product Recalls.",
"datePublished": "2024-10-23",
"url": "https://questionsmedicales.fr/article/39443361",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1208/s12249-024-02970-z"
}
},
{
"@type": "ScholarlyArticle",
"name": "Combined exposure to multiple metals on hypertension in NHANES under four statistical models.",
"datePublished": "2023-07-27",
"url": "https://questionsmedicales.fr/article/37498425",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1007/s11356-023-28902-1"
}
}
],
"breadcrumb": {
"@type": "BreadcrumbList",
"itemListElement": [
{
"@type": "ListItem",
"position": 1,
"name": "questionsmedicales.fr",
"item": "https://questionsmedicales.fr"
},
{
"@type": "ListItem",
"position": 2,
"name": "Maladies métaboliques et nutritionnelles",
"item": "https://questionsmedicales.fr/mesh/D009750"
},
{
"@type": "ListItem",
"position": 3,
"name": "Maladies métaboliques",
"item": "https://questionsmedicales.fr/mesh/D008659"
},
{
"@type": "ListItem",
"position": 4,
"name": "Troubles dus à un défaut de réparation de l'ADN",
"item": "https://questionsmedicales.fr/mesh/D049914"
},
{
"@type": "ListItem",
"position": 5,
"name": "Syndrome de Li-Fraumeni",
"item": "https://questionsmedicales.fr/mesh/D016864"
}
]
}
},
{
"@type": "MedicalWebPage",
"name": "Article complet : Syndrome de Li-Fraumeni - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur Syndrome de Li-Fraumeni",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2025-05-16",
"inLanguage": "fr",
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Diagnostic",
"headline": "Diagnostic sur Syndrome de Li-Fraumeni",
"description": "Comment est diagnostiqué le syndrome de Li-Fraumeni ?\nQuels tests génétiques sont utilisés ?\nQuels critères cliniques sont utilisés pour le diagnostic ?\nLe diagnostic peut-il être posé à tout âge ?\nLes tests de dépistage sont-ils recommandés ?",
"url": "https://questionsmedicales.fr/mesh/D016864?mesh_terms=Models,+Statistical&page=4#section-diagnostic"
},
{
"@type": "MedicalWebPage",
"name": "Symptômes",
"headline": "Symptômes sur Syndrome de Li-Fraumeni",
"description": "Quels sont les symptômes du syndrome de Li-Fraumeni ?\nLes symptômes apparaissent-ils à un âge précoce ?\nY a-t-il des signes spécifiques à surveiller ?\nLes symptômes sont-ils toujours liés à des cancers ?\nLes symptômes peuvent-ils varier d'une personne à l'autre ?",
"url": "https://questionsmedicales.fr/mesh/D016864?mesh_terms=Models,+Statistical&page=4#section-symptômes"
},
{
"@type": "MedicalWebPage",
"name": "Prévention",
"headline": "Prévention sur Syndrome de Li-Fraumeni",
"description": "Comment prévenir le syndrome de Li-Fraumeni ?\nLes personnes à risque doivent-elles se faire dépister ?\nY a-t-il des recommandations pour les familles touchées ?\nLes habitudes de vie peuvent-elles influencer le risque ?\nLes tests génétiques sont-ils recommandés pour tous ?",
"url": "https://questionsmedicales.fr/mesh/D016864?mesh_terms=Models,+Statistical&page=4#section-prévention"
},
{
"@type": "MedicalWebPage",
"name": "Traitements",
"headline": "Traitements sur Syndrome de Li-Fraumeni",
"description": "Quels traitements sont disponibles pour ce syndrome ?\nLa prévention des cancers est-elle possible ?\nLes traitements sont-ils différents selon le cancer ?\nY a-t-il des traitements expérimentaux disponibles ?\nLe suivi post-traitement est-il important ?",
"url": "https://questionsmedicales.fr/mesh/D016864?mesh_terms=Models,+Statistical&page=4#section-traitements"
},
{
"@type": "MedicalWebPage",
"name": "Complications",
"headline": "Complications sur Syndrome de Li-Fraumeni",
"description": "Quelles complications peuvent survenir avec ce syndrome ?\nLes complications sont-elles prévisibles ?\nComment gérer les complications psychologiques ?\nLes complications peuvent-elles affecter la qualité de vie ?\nY a-t-il des complications spécifiques aux traitements ?",
"url": "https://questionsmedicales.fr/mesh/D016864?mesh_terms=Models,+Statistical&page=4#section-complications"
},
{
"@type": "MedicalWebPage",
"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Syndrome de Li-Fraumeni",
"description": "Quels sont les principaux facteurs de risque ?\nLe mode de vie influence-t-il le risque ?\nLes femmes sont-elles plus à risque ?\nL'âge joue-t-il un rôle dans le risque ?\nLes facteurs environnementaux sont-ils impliqués ?",
"url": "https://questionsmedicales.fr/mesh/D016864?mesh_terms=Models,+Statistical&page=4#section-facteurs de risque"
}
]
},
{
"@type": "FAQPage",
"mainEntity": [
{
"@type": "Question",
"name": "Comment est diagnostiqué le syndrome de Li-Fraumeni ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic repose sur l'historique familial et des tests génétiques pour identifier des mutations."
}
},
{
"@type": "Question",
"name": "Quels tests génétiques sont utilisés ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les tests ciblent principalement les gènes TP53 et d'autres gènes associés au cancer."
}
},
{
"@type": "Question",
"name": "Quels critères cliniques sont utilisés pour le diagnostic ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les critères incluent des antécédents familiaux de cancers précoces et multiples."
}
},
{
"@type": "Question",
"name": "Le diagnostic peut-il être posé à tout âge ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le diagnostic peut être établi à tout âge, souvent après l'apparition de cancers."
}
},
{
"@type": "Question",
"name": "Les tests de dépistage sont-ils recommandés ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un dépistage régulier est conseillé pour détecter précocement les cancers."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes du syndrome de Li-Fraumeni ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes varient selon le type de cancer, incluant des douleurs, des masses et des changements de poids."
}
},
{
"@type": "Question",
"name": "Les symptômes apparaissent-ils à un âge précoce ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les cancers associés apparaissent souvent chez les jeunes adultes ou même les enfants."
}
},
{
"@type": "Question",
"name": "Y a-t-il des signes spécifiques à surveiller ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Surveillez les douleurs persistantes, les changements cutanés et les anomalies mammaires."
}
},
{
"@type": "Question",
"name": "Les symptômes sont-ils toujours liés à des cancers ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Pas toujours, mais tout symptôme persistant doit être évalué par un professionnel."
}
},
{
"@type": "Question",
"name": "Les symptômes peuvent-ils varier d'une personne à l'autre ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'expression des symptômes peut varier en fonction des cancers développés."
}
},
{
"@type": "Question",
"name": "Comment prévenir le syndrome de Li-Fraumeni ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il n'existe pas de prévention, mais un dépistage régulier peut aider à détecter les cancers tôt."
}
},
{
"@type": "Question",
"name": "Les personnes à risque doivent-elles se faire dépister ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les personnes à risque élevé doivent suivre un programme de dépistage régulier."
}
},
{
"@type": "Question",
"name": "Y a-t-il des recommandations pour les familles touchées ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les familles doivent consulter des conseillers en génétique pour des recommandations personnalisées."
}
},
{
"@type": "Question",
"name": "Les habitudes de vie peuvent-elles influencer le risque ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Adopter un mode de vie sain peut réduire le risque de certains cancers, mais pas tous."
}
},
{
"@type": "Question",
"name": "Les tests génétiques sont-ils recommandés pour tous ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, ils sont recommandés principalement pour les personnes ayant des antécédents familiaux."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour ce syndrome ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent la chirurgie, la chimiothérapie et la radiothérapie selon le cancer."
}
},
{
"@type": "Question",
"name": "La prévention des cancers est-elle possible ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une surveillance régulière et des interventions précoces peuvent aider à prévenir certains cancers."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils différents selon le cancer ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, chaque type de cancer peut nécessiter un traitement spécifique adapté."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux disponibles ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des essais cliniques peuvent offrir des options de traitement innovantes pour les patients."
}
},
{
"@type": "Question",
"name": "Le suivi post-traitement est-il important ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un suivi régulier est crucial pour détecter toute récidive ou nouveaux cancers."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec ce syndrome ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des cancers multiples, des effets secondaires des traitements et des problèmes psychologiques."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles prévisibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être anticipées, mais d'autres peuvent survenir de manière inattendue."
}
},
{
"@type": "Question",
"name": "Comment gérer les complications psychologiques ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un soutien psychologique et des groupes de soutien peuvent aider à gérer l'anxiété et la dépression."
}
},
{
"@type": "Question",
"name": "Les complications peuvent-elles affecter la qualité de vie ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications liées aux traitements et aux cancers peuvent altérer la qualité de vie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des complications spécifiques aux traitements ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les traitements peuvent entraîner des effets secondaires comme la fatigue, la nausée et l'immunosuppression."
}
},
{
"@type": "Question",
"name": "Quels sont les principaux facteurs de risque ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux de cancers et les mutations génétiques, notamment TP53, sont des facteurs clés."
}
},
{
"@type": "Question",
"name": "Le mode de vie influence-t-il le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des facteurs comme le tabagisme et l'alimentation peuvent influencer le risque de cancer."
}
},
{
"@type": "Question",
"name": "Les femmes sont-elles plus à risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, le syndrome affecte également les hommes, bien que certains cancers soient plus fréquents chez les femmes."
}
},
{
"@type": "Question",
"name": "L'âge joue-t-il un rôle dans le risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le risque de développer des cancers augmente avec l'âge, surtout après 30 ans."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux sont-ils impliqués ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des facteurs environnementaux peuvent contribuer au risque, mais le syndrome est principalement génétique."
}
}
]
}
]
}
Clinical prediction models estimate an individual's risk of a particular health outcome. A developed model is a consequence of the development dataset and model-building strategy, including the sample...
When evaluating a new risk factor for disease (eg, a measurement from imaging studies), many investigators examine its value above and beyond existing biomarkers and risk factors. They compare the per...
While many areas of medicine have benefited from the development of objective assessment tools and biomarkers, there have been comparatively few improvements in techniques used to assess brain functio...
The rapid progress in artificial intelligence (AI) has revolutionized problem-solving across various domains. The global challenge of pharmaceutical product recalls imposes the development of effectiv...
Metals exposure has gained increasing attention in the hypertension prevention. However, previous studies have focused on the impacts of single or separated metals on hypertension, and the critical me...
Inferring historical population admixture events yield essential insights in understanding a species demographic history. Methods are available to infer admixture events in demographic history with ex...
Here, we proposed eSMC, an extended PSMC model for admixture inference from a single source. We evaluated our model's performance on both in silico data and real data. We simulated population admixtur...
Our eSMC effectively infers the time of the most recent admixture event in history from a single individual's genomics data. The source code of eSMC is hosted at https://github.com/zachary-zzc/eSMC ....
Statistical shape models have been successfully used in numerous biomedical image analysis applications where prior shape information is helpful such as organ segmentation or data augmentation when tr...
Relying on recent advances in multi-level shape model localization via distance-based covariance matrix manipulations and Grassmannian-based level fusion, this work proposes a novel and computationall...
The method is evaluated on the publicly available JSRT/SCR chest X-ray and IXI brain data sets. The results confirm the effectiveness of the kernelized formulation and also highlight the models' impro...
This work shows that flexible and specific shape models from few training samples can be generated in a computationally efficient way by combining ideas from kernel theory and normalizing flows....
The proposed method together with its publicly available implementation allows to build shape models from few training samples directly usable for applications like data augmentation....
Hospital length of stay (LOS) is a key indicator of hospital care management efficiency, cost of care, and hospital planning. Hospital LOS is often used as a measure of a post-medical procedure outcom...
Data were generated under different simulation scenarios with varying sample sizes, proportions of zeros, and levels of overdispersion. Analysis of hospital LOS was conducted using empirical data from...
Results showed that Poisson and ZIP models performed poorly in overdispersed data. ZIP outperformed the rest of the regression models when the overdispersion is due to zero-inflation only. NB and ZINB...
Based on this study, we recommend to the researchers that they consider the ZIP models for count data with zero-inflation only and NB models for overdispersed data or data with combinations of zero-in...
An important application of CRISPR interference (CRISPRi) technology is for identifying chemical-genetic interactions (CGIs). Discovery of genes that interact with exposure to antibiotics can yield in...
High-dimensional inference is one of fundamental problems in modern biomedical studies. However, the existing methods do not perform satisfactorily. Based on the Markov property of graphical models an...