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.

December 10, 2020
Open Access

Simultaneous diagnosis of liver PEComa in a family with known Li-Fraumeni syndrome: a case report

Clinical Sarcoma Research
María Del Mar Galera LópezRosa Álvarez Álvarez
December 18, 2020
Review
Open Access

Germline TP53 Testing in Breast Cancers: Why, When and How?

Cancers
D Gareth R EvansThierry Frebourg
November 6, 2020

Li-Fraumeni Syndrome and Whole-Body MRI Screening: Screening Guidelines, Imaging Features, and Impact on Patient Management

AJR. American Journal of Roentgenology
Nikita ConsulKhaled M Elsayes
September 29, 2020
Comment / Editorial
Open Access

New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer

Familial Cancer
D Gareth Evans, Emma R Woodward
December 16, 2020
Open Access

In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas

European Journal of Human Genetics : EJHG
Diana Le DucJohannes R Lemke
September 10, 2020
Open Access

Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma

Cancers
Jacopo AzzolliniSiranoush Manoukian
November 20, 2020
Review
Open Access

Germline predisposition to genitourinary rhabdomyosarcoma

Translational Andrology and Urology
Kami Wolfe SchneiderAlexandra Suttman
December 31, 2020
Open Access

Genetic and stochastic influences upon tumor formation and tumor types in Li-Fraumeni mouse models

Life Science Alliance
Chang S ChanWenwei Hu
January 19, 2021
Review
Open Access

The importance of Li-Fraumeni syndrome, a hereditary cancer predisposition disorder

Archivos argentinos de pediatría
Belén Miranda AlcaldeBlanca López Ibor
January 1, 2021
Open Access

Recent advances in the pathology of heritable gastric cancer syndromes

Histopathology
Irene GulloFátima Carneiro
December 6, 2020
Preprint
Open Access

Identification of High risk nsSNPs in Human TP53 Gene Associated with Li Fraumeni Syndrome: An In Silico Analysis Approach

BioRxiv : the Preprint Server for Biology
Mujahed Ibrahim MustafaA. Makhawi
January 8, 2021
Open Access

Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome

Hereditary Cancer in Clinical Practice
Ofelia CruzCinzia Lavarino
November 12, 2020
Case Report
Open Access

Three Primary Tumors Including EGFR-mutated Non-Small Cell Lung Cancer as First Presentation in Patient With Li-Fraumeni Syndrome

Clinical Lung Cancer
Arjan GowerRonald Natale
January 14, 2021

Refractory Alveolar Rhabdomyosarcoma in a 11-year old male

Cold Spring Harbor Molecular Case Studies
Cora RickerNoah E Berlow

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