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

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/r...

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Bibliographic Details
Published in:	Molecular biology reports Vol. 47; no. 8; pp. 6439 - 6443
Main Authors:	Feitosa, José Antonio da Silva, das Chagas, Pablo Ferreira, de Sousa, Graziella Ribeiro, Queiroz, Rosane Gomes de Paula, Cruzeiro, Gustavo Alencastro Veiga, Tone, Luiz Gonzaga, Borges, Kleiton Silva, Valera, Elvis Terci
Format:	Journal Article
Language:	English
Published:	Dordrecht Springer Netherlands 01-08-2020 Springer Nature B.V
Subjects:	Adrenal Cortex Neoplasms - epidemiology Adrenal Cortex Neoplasms - genetics Animal Anatomy Animal Biochemistry Biomedical and Life Sciences Brazil - epidemiology Carcinoma Carcinoma - epidemiology Carcinoma - genetics Child, Preschool Children Choroid plexus Choroid Plexus Neoplasms - epidemiology Choroid Plexus Neoplasms - genetics Cohort Studies Female Genetic counseling Germ-Line Mutation Histology Humans Life Sciences Male Morphology Mutation Mutation Rate Neoplasms - epidemiology Neoplasms - genetics p53 Protein Pediatrics Point Mutation Rhabdomyosarcoma Rhabdomyosarcoma - epidemiology Rhabdomyosarcoma - genetics Short Communication Solid tumors Tumor Suppressor Protein p53 - genetics Tumors Brazil Pediatric cancer Tumor genetics Li–Fraumeni syndrome Rhabdomyosarcoma
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0301-4851 1573-4978
DOI:	10.1007/s11033-020-05655-5