ArticleCancer2017
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.
Article in Cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 33 citations in OpenAlex.
- Histopathological and Molecular Characteristics of Pediatric Adrenocortical Tumors: where Do we Stand?Endocrine pathology · 2026Review
- The molecular genetics of adrenal cushing.Hormones (Athens, Greece) · 2024Review
- AI-guided identification of risk variants for adrenocortical tumours inLancet regional health. Americas · 2024Article
- 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
- Article
- Prognostic Factors in Advanced Adrenocortical Carcinoma: Summary of a National Referral Center's 20 years of Experience.Journal of the Endocrine Society · 2022Article
- Article
- Psychological Impact ofCancers · 2022Article
- Inherited TP53 Variants and Risk of Prostate Cancer.European urology · 2022Article
- Newborn Screening for the Detection of theCancers · 2021Article
- Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.International journal of clinical oncology · 2021Article
- Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil.PloS one · 2021Article
- Prevalence of the BrazilianFrontiers in genetics · 2021Article
- Metastatic and recurrent adrenocortical cancer is not defined by its genomic landscape.BMC medical genomics · 2020Article
- Concordance Between Physician-rated and Caregiver-perceived Disease Severity in Children with Atopic Dermatitis: A Cross-sectional Study.Acta dermato-venereologica · 2020Article
- Frequency of the TP53 R337H variant in sporadic breast cancer and its impact on genomic instability.Scientific reports · 2020Article
- A RareCancer research · 2020Article
- TP53 p.Arg337His geographic distribution correlates with adrenocortical tumor occurrence.Molecular genetics & genomic medicine · 2020Article
- Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil.JCO global oncology · 2020Review
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Authors and funding
14 authors at 5 institutions in 3 countries.
Funding
Abstract
backgroundThe tumor protein p53 (TP53) arginine-to-histidine mutation at codon 337 (R337H) predisposes children to adrenocortical tumors (ACTs) and, rarely, to other childhood tumors, but its impact on adult cancer remains undetermined. The objective of this study was to investigate the frequency and types of cancer in relatives of children with ACT who carry the TP53 R337H mutation.
methodsTP53 R337H testing was offered to relatives of probands with ACT. The parental lineage segregating the R337H mutation was identified in all families. The frequency and distribution of cancer types were compared according to R337H status. The authors' data also were compared with those publicly available for children with TP53 mutations other than R337H.
resultsThe mean and median follow-up times for the probands with ACT were 11.2 years and 9.7 years (range, 3-32 years), respectively. During this time, cancer was diagnosed in 12 of 81 first-degree relatives (14.8%) carrying the R337H mutation but in only 1 of 94 noncarriers (1.1%; P = .0022). At age 45 years, the cumulative risk of cancer was 21% (95% confidence interval, 5%-33%) in carriers and 2% (95% confidence interval, 0%-4%) in noncarriers (P = .008). The frequency of cancer was higher in the R337H segregating lineages than in the nonsegregating lineages (249 of 1410 vs 66 of 984 individuals; P < .001). Breast and gastric cancer were the most common types.
conclusionsTP53 R337H carriers have a lifelong predisposition to cancer with a bimodal age distribution: 1 peak, represented by ACT, occurs in the first decade of life, and another peak of diverse cancer types occurs in the fifth decade. The current findings have implications for genetic counseling and surveillance of R337H carriers. Cancer 2017;123:3150-58. © 2017 American Cancer Society.
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