Article

Tumor Spectrum and Temporal Cancer Trends in adult carriers of Li-Fraumeni syndrome: Implications for Personalized Screening Strategies in<i>TP53</i>R337H carriers

2024-06-08

Abstract excerpt

<h4>SUMMARY</h4> <h4>Background</h4> Li-Fraumeni Syndrome (LFS) is a predisposition associated with early onset malignant tumors caused by germline pathogenic variants in the TP53 gene. Although rare worldwide, LFS is prevalent in Southern Brazil due to a founder pathogenic variant, c.1010G>A, p.Arg337His (R337H), discovered through its association with risk of childhood adrenal cortical carcinoma. <h4>Methods</h4...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: fcdd00e1-0159-5b1f-a110-36dd690cd9da
DOI: 10.1101/2024.06.07.24308605

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Tumor Spectrum and Temporal Cancer Trends in adult carriers of Li-Fraumeni syndrome: Implications for Personalized Screening Strategies in<i>TP53</i>R337H carriersDOI 10.1101/2024.06.07.24308605Read

Personalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriersSemantic proximity Read

Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil.Semantic proximity Read

Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort.Semantic proximity Read

Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromesSemantic proximity Read

Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.Semantic proximity Read

Update on Cancer Screening Recommendations for Individuals with Li–Fraumeni SyndromeSemantic proximity Read

Li–Fraumeni Syndrome: Mutation of TP53 Is a Biomarker of Hereditary Predisposition to Tumor: New Insights and Advances in the TreatmentSemantic proximity Read

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.Semantic proximity Read

Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li–Fraumeni syndromeSemantic proximity Read

Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening?Semantic proximity Read

Li Fraumeni syndrome in the UK: clinical characteristics and outcomes of TP53 carriersSemantic proximity Read

Inherited TP53 Mutations and the Li-Fraumeni Syndrome.Semantic proximity Read