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Li Fraumeni Syndrome predisposes to gastro-esophageal junction tumours
Li-Fraumeni Syndrome (LFS), caused by germline pathogenic variants in TP53 , predisposes to a wide range of young-onset malignancies, particularly...
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Factors affecting adherence to a high-risk surveillance protocol among patients with Li-Fraumeni syndrome
BackgroundHigh-risk surveillance for patients with Li-Fraumeni syndrome (LFS) has shown a stage shift and improved overall survival, but is...
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Pediatric-type high-grade gliomas with PDGFRA amplification in adult patients with Li-Fraumeni syndrome: clinical and molecular characterization of three cases
Li-Fraumeni syndrome (LFS) is an autosomal dominant tumor predisposition syndrome caused by heterozygous germline mutations or deletions in the TP53 ...
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Li-Fraumeni Syndrome
Li-Fraumeni syndrome (LFS) is a prototypic cancer susceptibility syndrome, resulting from germline pathogenic variants in the tumor suppressor gene,...
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Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report
BackgroundLi-Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome caused by pathogenic variants in the gene TP53 . This gene...
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Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation
BackgroundLi–Fraumeni syndrome (LFS) is a rare autosomal hereditary predisposition to multiples cancers, mainly affecting young individuals. It is...
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Unusual course of disease and genetic profile in Li-Fraumeni syndrome-associated osteosarcoma – a case report
BackgroundOsteosarcoma is a highly malignant tumour associated with numerous and complex genetic alterations like copy number alterations. Recent...
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Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome
Comprehensive annual screening reduces cancer-related mortality in Li-Fraumeni syndrome (LFS), a cancer-prone disorder caused by pathogenic germline TP53...
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Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome
BackgroundLi-Fraumeni Syndrome (LFS) is a cancer predisposition syndrome characterized by the early-onset of multiple primary cancers which can occur...
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Simultaneous diagnosis of liver PEComa in a family with known Li–Fraumeni syndrome: a case report
BackgroundLi–Fraumeni syndrome (LFS) is an autosomal dominant hereditary disease. It is associated with the loss of function of the p53 protein and...
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Current prospects of hereditary adrenal tumors: towards better clinical management
Adrenocortical carcinoma (ACC) and pheochromocytoma/paraganglioma (PPGL) are two rare types of adrenal gland malignancies. Regarding hereditary...
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Cumulative risk of skin cancer in patients with Li-Fraumeni syndrome
Li-Fraumeni syndrome (LFS) is an inherited cancer syndrome, characterized by an early onset of various types of cancers. LFS is associated with a...
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Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent
TP53 pathogenic variants cause Li-Fraumeni syndrome (LFS), with some variants causing an attenuated phenotype. Herein, we describe the clinical...
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Waiting and “weighted down”: the challenge of anticipatory loss for individuals and families with Li-Fraumeni Syndrome
Li-Fraumeni Syndrome (LFS) is characterized by risk of multiple primary malignancies in diverse sites, pediatric onset, near complete penetrance by...
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The first pancreatic neuroendocrine tumor in Li-Fraumeni syndrome: a case report
BackgroundLi-Fraumeni syndrome is a cancer predisposition syndrome caused by germline TP53 tumor suppressor gene mutations, with no previous...
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Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes
Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of cancers related to germline alterations of TP53 has...