Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors
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The incidence of adrenocortical tumors in children from the Southern region of Brazil is higher than in other parts of the world. This fact has been related to the identification of an inherited missense mutation of the p53 (R337H) at high frequency (78-97%) in Brazilian children with adrenocortical tumors. Given the high frequency of this germline mutation in the Brazilian population, it is very likely that the R337H mutation has arisen from a common origin. In this study, we analyzed two highly polymorphic intragenic markers (VNTRp53 and p53CA) in 22 patients (16 children and 6 adults) with adrenocortical tumors carrying the germline R337H mutation and 60 normal individuals using GeneScan Fragment Analysis software. We found six and sixteen different alleles for the VNTRp53 and p53CA polymorphic markers, respectively. Two distinct alleles, both with 122 bp, were found in 56.8% (VNTRp53) and 54.5% (p53CA) of the 44 alleles from patients with adrenocortical tumors associated with the R337H mutation. Differently, these same VNTRp53 and p53CA alleles were found in 18.3% and 14.2% of 120 alleles from normal individuals, respectively (p<0.01, Chi-square test). An identical haplotype for p53 locus was also identified in 95% of the apparently unrelated Brazilian patients with adrenocortical tumors carrying the R337H mutation. In conclusion, we demonstrated a strong evidence of co-segregation between two intragenic polymorphic p53 markers and the germline R337H mutation, indicating that this mutation has originated from a single common ancestral in the great majority of the Brazilian patients with adrenocortical tumors.
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The high childhood ACC incidence in Southern Brazil is mainly attributed to the high prevalence of the p.R337H low-penetrance allele of TP53.
“This is mainly attributed to the high prevalence of the p.R337H low-penetrance allele of TP53 (6–8).”
From Adrenocortical carcinoma (2014) · cites this paper as [8]
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Identity by Descent Mapping of Founder Mutations in Cancer Using High-Resolution Tumor SNP Data
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How Do Cancer-Related Mutations Affect the Oligomerisation State of the p53 Tetramerisation Domain?
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Inflammation-based score in pediatric adrenocortical carcinoma
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- Authors
- Pinto, E. M., Billerbeck, A. E. C., Villares, M. C. B. F., Domenice, S., Mendonça, B. B., & Latronico, A. C.
- Affiliations
- Universidade de São Paulo (BR)
- Universidade de São Paulo, Brasil
- Venue
- Arquivos Brasileiros de Endocrinologia & Metabologia
- Publisher
- FapUNIFESP (SciELO)
- Published
- 2004-10
- Volume
- 48
- Issue
- 5
- Pages
- 647-650
- ISSN
- 0004-2730 (ISSN-L)
- OpenAlex
- W2090940786
- Cited by
- 153
- References
- 9
- Citations by year
- 2026: 4 · 2025: 11 · 2024: 10 · 2023: 9 · 2022: 11 · 2021: 11 · 2020: 15 · 2019: 4 · 2018: 6 · 2017: 6 · 2016: 3 · 2015: 6 · 2014: 5 · 2013: 10 · 2012: 9
- FWCI
- 3.79
- Type
- journal article
- Language
- en
- Open access
- diamond
- doi.org
- Licence
- cc-by-nc
- Locations
- Arquivos Brasileiros de Endocrinologia & Metabologia (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (publishedVersion, other-oa)
- Americanae (AECID Library) (submittedVersion, other-oa)
- Topics
- Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- founder effect, germline mutations, adrenocortical tumors, congenital adrenal hyperplasia, mutation origin, Brazilian patients
- MeSH terms
- Adolescent, Adrenal Cortex Neoplasms, Adult, Alleles, Brazil, Child, Child, Preschool, Humans, Infant, Middle Aged, Mutation, Genes, p53
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