| Author | Andrade, R. C. | |
| Author | Cardoso, L. C. A. | |
| Author | Ferman, S. E. | |
| Author | Faria, P. S. | |
| Author | Seuánez, H. N. | |
| Author | Achatz, M. I. | |
| Author | Vargas, F. R. | |
| Access date | 2015-05-15T13:16:47Z | |
| Available date | 2015-05-15T13:16:47Z | |
| Document date | 2014 | |
| Citation | ANDRADE, R. C. et al. Association of TP53 Polymorphisms on the Risk of Wilms Tumor. Pediatr Blood Cancer, v.61, n.3, p.436–441, 2014. | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/10345 | |
| Language | eng | pt_BR |
| Publisher | Wiley Periodicals, Inc. | pt_BR |
| Rights | restricted access | |
| Subject in Portuguese | Tumor de Wilms | pt_BR |
| Title | Association of TP53 Polymorphisms on the Risk of Wilms Tumor | pt_BR |
| Type | Article | |
| DOI | 10.1002/pbc.24775 | pt_BR |
| Abstract | Background. Molecular factors influencing Wilms tumor (WT)
development remain largely unknown. TP53 mutations seem to be
restricted to the anaplastic WT subtype. However, TP53 polymorphisms
do not have a defined role in the disease. Procedure. To
assess the impact of TP53 mutations and polymorphisms (PIN2,
PIN3, and PEX4) on risk of development, age at diagnosis, and
survival in WT, we analyzed 46 blood DNA samples and 31 fresh
tumor DNA samples from 52 patients with WT. Sequencing of TP53
exons 2–11 was performed. Results. Tumor DNA analysis revealed
TP53 pathogenic missense mutations (p.V197M, p.R213Q, p.
R248W, and p.R337C) in four samples (12.9%). Blood DNA samples
revealed a novel intronic mutation, IVS2þ37C>T, in one patient
(2.2%). Bilaterality was associated with a twofold decrease in
survival (P¼0.00037). Diffuse anaplasia also presented a lower
survival probability compared to patients with non-anaplastic
tumors, or with focal anaplasia (P¼0.045). Patients with a TP53
somatic mutation showed survival probability of 37.5% versus
85.0% for patients with no somatic mutations, although the
difference was not statistically significant (P¼0.0706). PIN3
duplicated allele was associated with a 20-month later mean age
at diagnosis (P¼0.0084). TP53 PEX4 C allele showed an increased
risk for WT development (P¼0.0379). No relationship was found
between survival and gender, age at diagnosis, or the less frequent
alleles of PIN2, PIN3, and PEX4. Conclusions. Our results
demonstrate an association between PIN3 and age at diagnosis, as
well as an association of PEX4 and risk of development of WT. | pt_BR |
| Affilliation | Instituto Nacional de Câncer. Divisão de Genética. Rio de Janeiro, RJ, Brasil / Universidade Federal do Rio de Janeiro. Departamento de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Instituto Nacional de Câncer. Divisão de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Instituto Nacional de Câncer. Divisão de Pediatria Oncológica. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Instituto Nacional de Câncer. Divisão de Patologia. Rio de Janeiro, RJ, Brasil . | pt_BR |
| Affilliation | Instituto Nacional de Câncer. Divisão de Genética. Rio de Janeiro, RJ, Brasil / Universidade Federal do Rio de Janeiro. Departamento de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Hospital AC Camargo. Departamento de Oncogenética. São paulo, SP, Brasil. | pt_BR |
| Affilliation | Instituto Nacional de Câncer. Divisão de Genética. Rio de Janeiro, RJ, Brasil / Universidade Federal do Rio de Janeiro. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Laboratório de Epidemiologia e Malformações Congênitas. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Subject | PEX4 | pt_BR |
| Subject | PIN4 | pt_BR |
| Subject | PIN3 | pt_BR |
| Subject | TP53 | pt_BR |
| Subject | Wilms tumor | pt_BR |
| Subject in Spanish | Tumor de Wilms | pt_BR |
| DeCS | Tumor de Wilms | pt_BR |
