Frequency of the TP53 p.R337H mutation in a Brazilian cohort of pediatric patients with solid tumors.

Frequency of the TP53 p.R337H mutation in a Brazilian cohort of pediatric patients with solid tumors.
Mol Biol Rep. 2020 Jul 15;:
Authors: Feitosa JADS, das Chagas PF, de Sousa GR, Queiroz RGP, Cruzeiro GAV, Tone LG, Borges KS, Valera ET
Abstract
TP53 p.R337H germline mutation is highly prevalent in the Southern region of Brazil. We sought to investigate TP53 p.R337H mutation in pediatric tumor samples from a population settled in a geographic area of high prevalence for this variant. Mutation assessment and genetic counseling for carriers/relatives were provided. 6/57 tumor samples were heterozygous for TP53 p.R337H. As expected, a high frequency was observed within adrenocortical tumors (3/3) and choroid plexus carcinomas (2/2). Interestingly, the TP53 R337H mutation was found in one case of pediatric rhabdomyosarcoma with Li-Fraumeni pedigree. Our finding expands the spectrum of childhood cancer associated with this germline mutation.
PMID: 32671623 [PubMed - as supplied by publisher]

Source: Molecular Biology Reports - July 14, 2020 Category: Molecular Biology Authors: Feitosa JADS, das Chagas PF, de Sousa GR, Queiroz RGP, Cruzeiro GAV, Tone LG, Borges KS, Valera ET Tags: Mol Biol Rep Source Type: research