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

Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probands.

American journal of human genetics - 7 May 2026

Corredor Jessica L, Li Ruonan, Dodd-Eaton Elissa B, Casey Jacynda, Woodson Ashley H, Nguyen Nam H, Peng Gang, Gutierrez Angelica M, Arun Banu K, Wang Wenyi

Abstract excerpt

Genetic counseling and testing for germline mutations are essential for identifying individuals at increased risk for cancer. Pathogenic/likely pathogenic (P/LP) variants in TP53 are diagnostic of Li-Fraumeni syndrome (LFS), a highly penetrant disorder with diverse, early-onset tumors. Current clinical guidelines, such as Chompret and classic criteria, provide frameworks for identifying individuals at risk for...

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 Counseling

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 Mutation

Share to ROC Curve

Share to Tumor Suppressor Protein p53

Source

Open in PubMed Open full text

Identifiers

PMID: 41990740
DOI: 10.1016/j.ajhg.2026.03.014
PMCID: PMC13277690

Genes

TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probands.PMID 41990740Read ↗

Performance of LFSPRO <i>TP53</i> germline carrier risk predictions compared to standard genetic counseling practice on prospectively collected probandsSemantic proximity Read ↗

Estimating TP53 Mutation Carrier Probability in Families with Li-Fraumeni Syndrome Using LFSPRO.Semantic proximity Read ↗

Genotypic and phenotypic characteristics of germline TP53 variant carriers: experience from two cancer genetic counseling units.Semantic proximity Read ↗

Genotypic and Phenotypic Characteristics of Germline TP53 Variant Carriers: Experience from Two Cancer Genetic Counseling UnitsSemantic proximity Read ↗

Validating risk prediction models for multiple primaries and competing cancer outcomes in families with Li-Fraumeni syndrome using clinically ascertained data at a single instituteSemantic proximity Read ↗

Validating Risk Prediction Models for Multiple Primaries and Competing Cancer Outcomes in Families With Li-Fraumeni Syndrome Using Clinically Ascertained Data.Semantic proximity Read ↗

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysisSemantic proximity Read ↗

A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.Semantic proximity Read ↗

A pedigree-based prediction model identifies carriers of deleterious <i>de novo</i> mutations in families with Li-Fraumeni syndromeSemantic proximity Read ↗

Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants.Semantic proximity Read ↗

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

Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study.Semantic proximity Read ↗

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