ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2013
Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors.
Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 109 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
109 citing papers in PubMed, 1 synthesis or guideline pooled it, 188 citations in OpenAlex.
- Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis.JAMA oncology · 2017Pooled it
- Article
- Homozygous TP53 alterations: a case of a biallelic splice variant and a brief review of the literature.Familial cancer · 2026Review
- Genotypic and phenotypic characteristics of germline TP53 variant carriers: experience from two cancer genetic counseling units.Familial cancer · 2026Article
- A Rare Paediatric Adrenocortical Carcinoma with Aggressive Clinical Course.Journal of the ASEAN Federation of Endocrine Societies · 2026Article
- Histopathological and Molecular Characteristics of Pediatric Adrenocortical Tumors: where Do we Stand?Endocrine pathology · 2026Review
- 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 · 2026Article
- Urgent need to recognize that Disease-Causing TP53 variants with atypical penetrance require distinct clinical recommendations.Journal of the National Cancer Institute · 2026Article
- Natural History of Rare Tumor Risk Syndromes: A Scoping Review to Inform Cost-Effectiveness Models.Journal of health economics and outcomes research · 2026Article
- Making Sense of Missense: Assessing and Incorporating the Functional Impact of Constitutional Genetic Testing.Children (Basel, Switzerland) · 2025Article
- A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.Genome medicine · 2025Review
- The TP53 tumor suppressor gene: From molecular biology to clinical investigations.Journal of internal medicine · 2025Review
- Germline TP53 p.R337H and XAF1 p.E134* Variants: Prevalence in Paraguay and Comparison with Rates in Brazilian State of Paraná and Previous Findings at the Paraguayan-Brazilian Border.Current oncology (Toronto, Ont.) · 2025Article
- Progress in the Genetics of Myelodysplastic Syndromes with a Latin American Perspective.Genes · 2025Review
- Re-envisioning genetic predisposition to childhood and adolescent cancers.Nature reviews. Cancer · 2025Review
- Cancer risk in carriers of TP53 germline variants grouped into different functional categories.JNCI cancer spectrum · 2025Article
- AI-guided identification of risk variants for adrenocortical tumours inLancet regional health. Americas · 2024Article
- Article
- Newborn Screening for Li-Fraumeni Syndrome: Patient Perspectives.Research square · 2024Article
- Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies.Pediatric research · 2024Article
49 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
30 authors.
Funding
Abstract
purposeThe incidence of pediatric adrenocortical tumors (ACTs) is remarkably high in southern Brazil, where more than 90% of patients carry the germline TP53 mutation R337H. We assessed the impact of early detection of this mutation and of surveillance of carriers. PATIENTS AND
methodsFree newborn screening was offered at all hospitals in the state of Paraná. Parents of positive newborns were tested, and relatives in the carrier line were offered screening. Positive newborns and their relatives age < 15 years were offered surveillance (periodic clinical, laboratory, and ultrasound evaluations). ACTs detected by imaging were surgically resected.
resultsOf 180,000 newborns offered screening, 171,649 were screened, and 461 (0.27%) were carriers. As of April 2012, ACTs had been diagnosed in 11 of these carriers but in only two neonatally screened noncarriers (P < .001); six patient cases were identified among 228 carrier relatives age < 15 years (total, 19 ACTs). Surveillance participants included 347 (49.6%) of 699 carriers. Tumors were smaller in surveillance participants (P < .001) and more advanced in nonparticipants (four with stage III disease; two deaths). Neonatally screened carriers also had neuroblastoma (n = 1), glioblastoma multiforme (n = 1), choroid plexus carcinoma (n = 2), and Burkitt lymphoma (n = 1). Cancer histories and pedigrees were obtained for 353 families that included 1,704 identified carriers. ACTs were the most frequent cancer among carrier children (n = 48).
conclusionThese findings establish the prevalence of the TP53 R337H mutation in Paraná state and the penetrance of ACTs among carriers. Importantly, screening and surveillance of heterozygous carriers are effective in detecting ACTs when readily curable.
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