ReviewCold Spring Harbor perspectives in medicine2016
The Inherited p53 Mutation in the Brazilian Population.
Review in Cold Spring Harbor perspectives in medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 101 citations in OpenAlex.
- Multiracial individuals' perspectives on participating in genetics research.Journal of community genetics · 2026Article
- Beyond 1100delC: distinct CHEK2 variants and unique cancer phenotypes in Northeast Brazil.Familial cancer · 2026Article
- Quantum chemical profiling of protein mutations via fragment-based DFT.Frontiers in molecular biosciences · 2026Article
- TP53 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotype.Scientific reports · 2025Article
- Personalized screening strategies forLancet regional health. Americas · 2025Article
- Correlation of p53 oligomeric status and its subcellular localization in the presence of the AML-associated NPM mutant.PloS one · 2025Article
- Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.Breast cancer research and treatment · 2024Article
- Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies.Pediatric research · 2024Article
- BRCA1, BRCA2, and TP53 germline and somatic variants and clinicopathological characteristics of Brazilian patients with epithelial ovarian cancer.Cancer medicine · 2024Article
- A portrait of germline pathogenic variants in high and moderate penetrance breast cancer genes in Brazil.Frontiers in oncology · 2024Article
- Importance of genetic cancer risk assessment as a strategy to stratify risk and provide precision prevention in high-risk patients and families.Revista da Associacao Medica Brasileira (1992) · 2024Article
- The history of families at-risk for hereditary breast and ovarian cancer: what are the impacts of genetic counseling and testing?Frontiers in psychology · 2024Article
- Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.Journal of medical genetics · 2023Article
- The Clinical and Molecular Profile of Lung Cancer Patients Harboring theInternational journal of molecular sciences · 2023Article
- Novel scheme for defining the clinical implications of TP53 mutations in myeloid neoplasia.Journal of hematology & oncology · 2023Article
- Cancer Predisposition Syndromes and Thyroid Cancer: Keys for a Short Two-Way Street.Biomedicines · 2023Review
- Li-Fraumeni Syndrome-Associated Dimer-Forming Mutant p53 Promotes Transactivation-Independent Mitochondrial Cell Death.Cancer discovery · 2023Article
- Novel Scheme for Defining the Clinical Implications of TP53 Mutations in Myeloid Neoplasia.Research square · 2023Article
- Lessons learnt from the clinico-genomic profiling of families with Li Fraumeni syndrome at a tertiary care centre in North India.Ecancermedicalscience · 2023Article
- Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.Scientific reports · 2022Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A common criticism of studying rare diseases is the often-limited relevance of the findings to human health. Here, we review ∼15 years of research into an unusual germline TP53 mutation (p.R337H) that began with its detection in children with adrenocortical carcinoma (ACC), a remarkably rare childhood cancer that is associated with poor prognosis. We have come to learn that the p.R337H mutation exists at a very high frequency in Southern and Southeastern Brazil, occurring in one of 375 individuals within a total population of ∼100 million. Moreover, it has been determined that carriers of this founder mutation display variable tumor susceptibility, ranging from isolated cases of pediatric ACC to Li-Fraumeni or Li-Fraumeni-like (LFL) syndromes, thus representing a significant medical issue for this country. Studying the biochemical and molecular consequences of this mutation on p53 tumor-suppressor activity, as well as the putative additional genetic alterations that cooperate with this mutation, is advancing our understanding of how p53 functions in tumor suppression in general. These studies, which originated with a rare childhood tumor, are providing important information for guiding genetic counselors and physicians in treating their patients and are already providing clinical benefit.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.