Li-Fraumeni Syndrome

Li-Fraumeni syndrome in an inherited predisposition to a range of cancers due to a mutation in the tumor suppressor gene TP53. The diagnosis is made if cancer occurs at a young age and there is also a family history of sarcoma or cancer at a young age. Find the latest research on Li-Fraumeni syndrome here.

January 15, 2022

Overview of the Clinical Features of Li-Fraumeni Syndrome and the Current European ERN GENTURIS Guideline.

Geburtshilfe und Frauenheilkunde
Christian P KratzElke Holinski-Feder
January 9, 2022

Final results of the Choroid Plexus Tumor study CPT-SIOP-2000.

Journal of Neuro-oncology
Johannes E WolffUwe Kordes
January 8, 2022

Evaluation of TP53 Variants Detected on Peripheral Blood or Saliva Testing: Discerning Germline From Somatic TP53 Variants.

JCO Precision Oncology
Alison N SchwartzJudy E Garber
December 22, 2021
Review

Melanoma in patients with Li-Fraumeni syndrome (Review).

Experimental and Therapeutic Medicine
Florica SandruAdina Ghemigian
December 16, 2021
Open Access

Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients.

Hereditary Cancer in Clinical Practice
Abdul Khalid SirajKhawla Sami Al-Kuraya
December 16, 2021

Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Cristina FortunoAmanda B Spurdle
December 10, 2021
Open Access

Oligomerization of Mutant p53 R273H is not Required for Gain-of-Function Chromatin Associated Activities.

Frontiers in Cell and Developmental Biology
George K AnnorJill Bargonetti
December 6, 2021

Inherited TP53 Variants and Risk of Prostate Cancer.

European Urology
Kara N MaxwellColin C Pritchard
December 4, 2021
Correction

Correction to: Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.

International Journal of Clinical Oncology
Tadashi KumamotoYukiko Tsunematsu
December 3, 2021
Review

Avoidance or adaptation of radiotherapy in patients with cancer with Li-Fraumeni and heritable TP53-related cancer syndromes.

The Lancet Oncology
Juliette ThariatGaelle Bougeard
December 2, 2021
Case Report

Revisiting the indication for prophylactic contralateral mastectomy in patients with Li-Fraumeni syndrome and breast cancer. Case report

Revista colombiana de obstetricia y ginecología
Ximena Briceño-MoralesRaúl Alexis Súarez-Rodríguez
November 22, 2021
Review

Tumor Syndromes: Neurosurgical Evaluation and Management.

Neurosurgery Clinics of North America
Aravinda GanapathyKimberly A Mackey
November 23, 2021

Quantification of Discordant Variant Interpretations in a Large Family-Based Study of Li-Fraumeni Syndrome.

JCO Precision Oncology
Megan N FronePayal P Khincha
November 23, 2021
Review

Brain Cancers in Genetic Syndromes.

Current Neurology and Neuroscience Reports
Edina Komlodi-Pasztor, Jaishri O Blakeley
November 21, 2021
Review

Genetic Syndromes Associated with Gastric Cancer.

Gastrointestinal Endoscopy Clinics of North America
Woojin KimGregory Idos
November 17, 2021

Reproduction and Genetic Responsibility: An Interpretive Description of Reproductive Decision-Making for Young People With Li-Fraumeni Syndrome.

Qualitative Health Research
Rowan Forbes ShepherdLaura E Forrest

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