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

Reconstructing the Origin and Demographic Expansion of the TP53 p.R337H Founder Variant in Brazil.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology - 3 Feb 2026

Pinto Emilia Modolo, Muzzi João Carlos Degraf, Yunes José Andres, de Figueiredo Bonald Cavalcante, Ribeiro Raul C, Zambetti Gerard P

Abstract excerpt

BACKGROUND: The TP53 p.R337H variant is a well-characterized founder mutation with an unusually high prevalence in Brazil, particularly in the South and Southeast regions, where it affects approximately one in 300 individuals. It is recurrently associated with pediatric adrenocortical tumors and malignancies within the Li-Fraumeni syndrome spectrum but exhibits markedly incomplete penetrance, suggesting the...

Read the complete abstract on PubMed

Topics

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

Share to Brazil
Share to Founder Effect

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to IMPACT gene

Share to TP53 gene

Share to Li-Fraumeni Syndrome

Share to Mutation

Share to Tumor Suppressor Protein p53

Source

Open in PubMed Open full text

Identifiers

PMID: 41160463
DOI: 10.1158/1055-9965.EPI-25-1148
PMCID: PMC12666849

Genes

TP53
IMPACT

Variants

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

Reconstructing the Origin and Demographic Expansion of the TP53 p.R337H Founder Variant in Brazil.PMID 41160463Read ↗

European Colonial Echoes in Cancer Risk: Lessons from the TP53 p.R337H Founder Variant in Brazil.Semantic proximity Read ↗

Multiple TP53 p.R337H haplotypes and implications for tumor susceptibilitySemantic proximity Read ↗

Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.Semantic proximity Read ↗

What 20 years of research has taught us about the TP53 p.R337H mutation.Semantic proximity Read ↗

The Inherited p53 Mutation in the Brazilian Population.Semantic proximity Read ↗

Contribution of the TP53 R337H mutation to the cancer burden in southern Brazil: Insights from the study of 55 families of children with adrenocortical tumors.Semantic proximity Read ↗

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

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

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

[Brazilian story of the R337H p53 mutation].Semantic proximity Read ↗

TP53 p.Arg337His geographic distribution correlates with adrenocortical tumor occurrenceSemantic proximity Read ↗

Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil.Semantic proximity Read ↗

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