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Li-Fraumeni Syndrome

Li-Fraumeni Syndrome diagram by Seidinger et al, PLOS One
Seidinger et al, PLOS One

Li-Fraumeni Syndrome is a rare autosomal dominant syndrome caused by mutations in the tumor suppressor TP53 and characterized by mesenchymal and epithelial neoplasms and several sites. Here is the latest research.

Top 20 most recent papers
Blood

Gene alterations in epigenetic modifiers and JAK-STAT signaling are frequent in breast implant-associated ALCL

BloodNovember 28, 2019
Camille LaurentPhilippe Gaulard
5
Journal of Medical Genetics

Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)

Journal of Medical GeneticsNovember 14, 2019
Elizabeth K BancroftLeslie G Walker
7
1
1
Scientific Reports

Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing

Scientific ReportsDecember 8, 2019
Mev Dominguez-ValentinEivind Hovig
13
1
Neuro-oncology

Germline cancer predisposition variants and pediatric glioma: a population-based study in California

Neuro-oncologyJanuary 24, 2020
Ivo S MuskensJoseph L Wiemels
Cell Reports

A Mouse Homolog of a Human TP53 Germline Mutation Reveals a Lipolytic Activity of p53

Cell ReportsJanuary 23, 2020
Ju-Gyeong KangPaul M Hwang
8
Small

Hierarchical Composite of Rose-Like VS2 @S/N-Doped Carbon with Expanded (001) Planes for Superior Li-Ion Storage

SmallNovember 21, 2019
Wenjuan YangMingdeng Wei
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences

Importance of adipocyte browning in the evolution of endothermy

Philosophical Transactions of the Royal Society of London. Series B, Biological SciencesJanuary 14, 2020
Martin Jastroch, Frank Seebacher
19
ACS Applied Materials & Interfaces

Asymmetric-Structure Design of Electrolyte with Flexibility and Lithium Dendrite-Suppression Ability for Solid-State Lithium Batteries

ACS Applied Materials & InterfacesNovember 27, 2019
Huan-Liang GuoShi-Gang Sun
2
Pediatric Neurology

Genetics of Common Pediatric Brain Tumors

Pediatric NeurologyJanuary 18, 2020
Fatema Malbari, Holly Lindsay
2
6
The Journal of Molecular Diagnostics : JMD

Apparently Heterozygous TP53 Pathogenic Variants May Be Blood-Limited in Patients Undergoing Hereditary Cancer Panel Testing

The Journal of Molecular Diagnostics : JMDDecember 28, 2019
Jessica L MesterKathleen S Hruska
3
Acta Neuropathologica

Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome

Acta NeuropathologicaJanuary 4, 2020
David SumerauerMichal Zapotocky
3
Cancer Research

Penetrance estimates over time to first and second primary cancer diagnosis in families with Li-Fraumeni syndrome: a single institution perspective

Cancer ResearchNovember 14, 2019
Seung Jun ShinWenyi Wang
4
Zootaxa

On the identity and distribution of the Old World grass feeding leafhopper species Soractellus nigrominutus Evans (Hemiptera: Cicadellidae: Deltocephalinae: Paralimnini)

ZootaxaNovember 14, 2019
M D WebbS A El-Sonbati
1
2
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology

Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Uganda and Cameroon Women

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive OncologyDecember 25, 2019
Babatunde AdedokunDezheng Huo
1
Cancer Research

Penetrance of different cancer types in families with Li-Fraumeni syndrome: a validation study using multi-center cohorts

Cancer ResearchNovember 14, 2019
Seung Jun ShinWenyi Wang
5
Medical Physics

A Deep Learning Method for Producing Ventilation Images from 4DCT: First Comparison with Technegas SPECT Ventilation

Medical PhysicsDecember 29, 2019
Zhiqiang LiuJianrong Dai
1
The American Journal of Surgical Pathology

Clinicopathologic, Immunohistochemical, and Molecular Characteristics of Ovarian Serous Carcinoma With Mixed Morphologic Features of High-grade and Low-grade Serous Carcinoma

The American Journal of Surgical PathologyDecember 27, 2019
Shabnam ZareiDebra A Bell
International Journal of Molecular Sciences

Do Mutations Turn p53 into an Oncogene?

International Journal of Molecular SciencesDecember 15, 2019
Consuelo PitolliIvano Amelio
5
Endocrinology, Diabetes & Metabolism Case Reports

Adrenocortical carcinoma masquerading as pheochromocytoma: a histopathologic dilemma

Endocrinology, Diabetes & Metabolism Case ReportsJanuary 10, 2020
Impana ShettyJaydira Del Rivero
Case Reports in Oncological Medicine

Unique Case Report of a Meningeal Sarcoma Arising during Ongoing Treatment for Progressing Intraparenchymal Glioma

Case Reports in Oncological MedicineDecember 31, 2019
Richard A PetersonLeah R Hanson
7

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