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

The Biology of Hypomorphic TP53 Variants and Implications for Clinical Management.

Clinical cancer research : an official journal of the American Association for Cancer Research - 14 Aug 2026

Moses Renyta, Powers Jacquelyn, Levine Alison S, Garber Judy E, MacFarland Suzanne P, Rana Huma Q, Murphy Maureen E, Maxwell Kara N

Abstract excerpt

In individuals with classic Li-Fraumeni syndrome (LFS) due to a loss-of-function pathogenic germline variant in TP53, loss of p53 tumor suppressive function leads to a high risk of childhood cancers such as sarcomas, adrenal cortical carcinomas, brain tumors, and leukemia. In adults with classic LFS, in addition to the classical malignancies, breast cancers and other cancers develop at earlier ages of onset...

Read the complete abstract on PubMed

Topics

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

Share to TP53 gene
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Germ-Line Mutation

Share to Li-Fraumeni Syndrome

Share to Neoplasms

Share to Tumor Suppressor Protein p53

Source

Identifiers

PMID: 42283722
DOI: 10.1158/1078-0432.CCR-25-4543

Genes

TP53

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

The Biology of Hypomorphic TP53 Variants and Implications for Clinical Management.PMID 42283722Read ↗

Common activities and predictive gene signature identified for genetic hypomorphs of TP53.Semantic proximity Read ↗

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

Li-Fraumeni SyndromeSemantic proximity Read ↗

Paired Tumor-Normal Sequencing Provides Insights Into the TP53-Related Cancer Spectrum in Patients 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 ↗

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

Phenotypical mapping of TP53 unique missense mutations spectrum in human cancers.Semantic proximity Read ↗

Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome.Semantic proximity Read ↗

Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German RegistrySemantic proximity Read ↗

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

Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.Semantic proximity Read ↗

Characterization of p53 p.T253I as a pathogenic mutation underlying Li-Fraumeni syndrome in an infant with adrenal cortical carcinomaSemantic proximity Read ↗

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