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

Author(s)

da Silva Feitosa, Jose Antonio ; das Chagas, Pablo Ferreira ; de Sousa, Graziella Ribeiro ; de Paula Queiroz, Rosane Gomes ; Veiga Cruzeiro, Gustavo Alencastro ; Tone, Luiz Gonzaga ; Borges, Kleiton Silva ; Valera, Elvis Terci

• Document type: Journal article
• Source: MOLECULAR BIOLOGY REPORTS; v. 47, n. 8, p. 5-pg., 2020-07-15.

Abstract

TP53p.R337H germline mutation is highly prevalent in the Southern region of Brazil. We sought to investigateTP53p.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 forTP53p.R337H. As expected, a high frequency was observed within adrenocortical tumors (3/3) and choroid plexus carcinomas (2/2). Interestingly, theTP53R337H 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. (AU)

• FAPESP's process: 14/20341-0 - Interactions between emerging therapeutic targets and developmental pathways associated with tumorigenesis: emphasis on pediatric malignancies
• Grantee: Luiz Gonzaga Tone
• Support Opportunities: Research Projects - Thematic Grants