2004
DOI: 10.1590/s0004-27302004000500009
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Abstract: 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 i… Show more

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Cited by 115 publications
(67 citation statements)
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“…This strongly indicates co-segregation between these markers and the R337H germline mutation. Additionally, the mutation may have originated from the founder effect in a common ancestor of most Brazilian patients with ACT (Pinto et al, 2004;Palmero et al, 2008). Analysis of inheritance patterns of families in Paraná State suggested that the R337H mutant allele emerged at least 110 years ago (Figueiredo et.…”
Section: Discussionmentioning
confidence: 99%
“…This strongly indicates co-segregation between these markers and the R337H germline mutation. Additionally, the mutation may have originated from the founder effect in a common ancestor of most Brazilian patients with ACT (Pinto et al, 2004;Palmero et al, 2008). Analysis of inheritance patterns of families in Paraná State suggested that the R337H mutant allele emerged at least 110 years ago (Figueiredo et.…”
Section: Discussionmentioning
confidence: 99%
“…Essa mutação leva à instabilidade da proteína na dependência do pH tecidual elevado, como encontrado nas adrenais (57). A análise de haplótipos deste mutante demonstrou um possível efeito fundador (58). Resultados de estudos recentes demonstraram que as famílias brasileiras carreando esse alelo mutante habitam locais ao longo da principal rota utilizada pelos comerciantes portugueses nos séculos XVIII e XIX (59).…”
Section: Bases Moleculares Dos Tumores Adrenocorticaisunclassified
“…56 The high incidence of ACT in patients from this region is therefore explained by the presence of the germline Arg337His mutation, which was likely inherited from a common founder. 55 Nevertheless, Arg337His has been detected in isolated ACT cases outside of Brazil but not yet as a common TP53 mutation in other populations.…”
mentioning
confidence: 99%
“…14,49,54 Molecular studies identify the same haplotype for the TP53 locus in individuals carrying the Arg337His mutation, indicating a common origin for this mutation (founder effect). 55 The majority of the population in the southern region of Brazil is of European extraction (Portuguese, Italians, Spanish, and Germans) with native Brazilian Indian and African influence. 56 The high incidence of ACT in patients from this region is therefore explained by the presence of the germline Arg337His mutation, which was likely inherited from a common founder.…”
mentioning
confidence: 99%