Molecular epidemiology of adrenocortical tumors in southern Brazil

Custódio, Gislaine; Komechen, Heloisa; Figueiredo, Francisco R.O.; Fachin, Natasha D.; Pianovski, Mara A.D.; Figueiredo, Bonald C.

doi:10.1016/j.mce.2011.10.019

Cited by 63Adrenal and Paraganglionic TumorsSarcoma Diagnosis and TreatmentChromatin Remodeling and Cancer

Molecular epidemiology of adrenocortical tumors in southern Brazil

Custódio, Gislaine, Komechen, Heloisa, Figueiredo, Francisco R.O., Fachin, Natasha D., Pianovski, Mara A.D., Figueiredo, Bonald C.·2012·Molecular and Cellular Endocrinology

DOI 10.1016/j.mce.2011.10.019

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Abstract

The high frequency of TP53 R337H carriers in southern Brazil is responsible for the highest known incidence of childhood adrenocortical tumor (ACT). Our aims were to examine other contributing mutations, age-related risk factors, epidemiological differences in ACT and to shed light on a method for increasing the survival rate of children. The fetal zone of the adrenal cortex is believed to be one of the tissues most susceptible to adenoma or carcinoma formation due to loss of p53 function. The founder germline R337H mutation is found in 95% of ACTs of young children, a much greater proportion than in adults. Despite intense educational campaigns about the high incidence of ACT in Paraná State, advanced cases remain common. Four advanced ACT cases (4/5) were admitted to a single institution in the first 6months of 2011 in Paraná State, none of the families knew about ACT, and 2 reported no familial cancer syndrome. Curative resection is possible when a small ACT is detected early.

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The p.R337H mutation is a low-penetrance tetramerization domain mutation in Southern Brazil.
“One particular hot spot mutation has been described to date, which is the low-penetrance tetramerization domain p.R337H mutation in Southern Brazil (14, 37–39).”
From Adrenocortical carcinoma (2014) · cites this paper as [37]
The p.R337H mutation causes other LFS-associated tumors as well as a Li Fraumeni-like syndrome in affected families.
“Although it was initially believed that this mutation specifically predisposes to ACC development in childhood, it is now well recognized that this mutation causes other LFS-associated tumors as well as a Li Fraumeni-like syndrome in affected families (37).”
From Adrenocortical carcinoma (2014) · cites this paper as [37]

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Childhood Adrenocortical Tumours: a Review
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Penetrance of the TP53 R337H Mutation and Pediatric Adrenocortical Carcinoma Incidence Associated with Environmental Influences in a 12-Year Observational Cohort in Southern Brazil
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Authors: Custódio, G., Komechen, H., Figueiredo, F. R. O., Fachin, N. D., Pianovski, M. A. D., & Figueiredo, B. C.
Affiliations: Universidade Federal do Paraná (BR)
Corresponding author: Figueiredo, Bonald C.
ORCID: Pianovski, Mara A.D.
Figueiredo, Bonald C.
Venue: Molecular and Cellular Endocrinology
Publisher: Elsevier BV
Published: 2012-03
Volume: 351
Issue: 1
Pages: 44-51
ISSN: 0303-7207 (ISSN-L)
DOI: 10.1016/j.mce.2011.10.019
OpenAlex: W1987416125
Cited by: 63
References: 83
Citations by year: 2026: 1 · 2025: 3 · 2024: 2 · 2023: 2 · 2022: 5 · 2021: 7 · 2020: 3 · 2019: 3 · 2018: 5 · 2017: 5 · 2016: 6 · 2015: 8 · 2014: 8 · 2013: 4 · 2012: 1
FWCI: 0.75
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Molecular and Cellular Endocrinology (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Sarcoma Diagnosis and Treatment
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
Keywords: adrenocortical tumors, germline TP53 mutation, p53, founder mutation, age-related risk factors, tumor survival, early detection, adrenal adenoma, adrenocortical carcinoma, Paraná, southern Brazil
MeSH terms: Adolescent, Adrenal Cortex Neoplasms, Adult, Age Factors, Brazil, Child, Child, Preschool, Female, Humans, Male, Incidence, Tumor Suppressor Protein p53, Molecular Epidemiology, Mutation, Missense

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Molecular epidemiology of adrenocortical tumors in southern Brazil

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