Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional evaluation of germline TP53 variants identified in Brazilian families at-risk for Li-Fraumeni syndrome.

Scientific reports - 26 Jul 2024

Abreu Renata B V, Pereira Ariane S, Rosa Marcela N, Ashton-Prolla Patricia, Silva Viviane A O, Melendez Matias E, Palmero Edenir I

Abstract excerpt

Germline TP53 pathogenic variants can lead to a cancer susceptibility syndrome known as Li-Fraumeni (LFS). Variants affecting its activity can drive tumorigenesis altering p53 pathways and their identification is crucial for assessing individual risk. This study explored the functional impact of TP53 missense variants on its transcription factor activity. We selected seven TP53 missense variants (c.129G > C,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brazil
Share to Cell Cycle Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cyclin-Dependent Kinase Inhibitor p21

Share to Germ-Line Mutation

Share to Li-Fraumeni Syndrome

Share to Proto-Oncogene Proteins c-mdm2

Share to Transcriptional Activation

Share to Tumor Suppressor Protein p53

Source

Open in PubMed Open full text

Identifiers

PMID: 39060302
DOI: 10.1038/s41598-024-67810-3
PMCID: PMC11282216

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional evaluation of germline TP53 variants identified in Brazilian families at-risk for Li-Fraumeni syndrome.PMID 39060302Read ↗

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

Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndromeSemantic proximity Read ↗

Germline mutations of p53 tumor gene linked to Li-Fraumeni syndrome (LFS) are associated with an increased risk of cancerSemantic proximity Read ↗

Clinical and Genetic Analysis of Li-Fraumeni Syndrome with Novel TP53 MutationsSemantic proximity Read ↗

Genetic and functional analysis of a Li Fraumeni syndrome family in China.Semantic proximity Read ↗

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

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

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

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

Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.Semantic 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 ↗

Characterization of p53 p.T253I as a pathogenic mutation underlying Li-Fraumeni SyndromeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.