Newborn Screening for the Detection of the TP53 R337H Variant and Surveillance for Early Diagnosis of Pediatric Adrenocortical Tumors: Lessons Learned and Way Forward

SIMPLE SUMMARY: Adrenocortical tumor (ACT) is rare in children and fatal if not detected early. Children who inherit a mutation of the TP53 gene tend to develop ACT early in life. In the 1990s, scientists revealed that a TP53 variant (R337H) was frequent in South Brazil. Therefore, the incidence of...

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Autores principales: Tosin, Karina C. F., Legal, Edith F., Pianovski, Mara A. D., Ibañez, Humberto C., Custódio, Gislaine, Carvalho, Denise S., Figueiredo, Mirna M. O., Hoffmann Filho, Anselmo, Fiori, Carmem M. C. M., Rodrigues, Ana Luiza M., Mello, Rosiane G., Ogradowski, Karin R. P., Parise, Ivy Z. S., Costa, Tatiana E. J., Melanda, Viviane S., Watanabe, Flora M., Silva, Denise B., Komechen, Heloisa, Laureano, Henrique A., Carboni, Edna K., Kuczynski, Ana P., Luiz, Gabriela C. F., Lima, Leniza, Tormen, Tiago, Gerber, Viviane K. Q., Anegawa, Tania H., Avilla, Sylvio G. A., Tenório, Renata B., Mendes, Elaine L., Fachin Donin, Rayssa D., Souza, Josiane, Kozak, Vanessa N., Oliveira, Gisele S., Souza, Deivid C., Gomy, Israel, Teixeira, Vinicius B., Borba, Helena H. L., Kiesel Filho, Nilton, Parise, Guilherme A., Ribeiro, Raul C., Figueiredo, Bonald C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8656743/
https://www.ncbi.nlm.nih.gov/pubmed/34885220
http://dx.doi.org/10.3390/cancers13236111

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