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Article

Genomics of a pediatric ovarian fibrosarcoma. Association with the DICER1 syndrome.

Scientific reports - 19 Feb 2018

Melendez-Zajgla Jorge, Mercado-Celis Gabriela E, Gaytan-Cervantes Javier, Torres Amada, Gabiño Nayeli Belem, Zapata-Tarres Martha, Juarez-Villegas Luis Enrique, Lezama Pablo, Maldonado Vilma, Ruiz-Monroy Karen, Mendoza-Caamal Elvia

Abstract excerpt

Ovarian fibrosarcomas are extremely rare tumors with little genomic information available to date. In the present report we present the tumoral exome and transcriptome and the germinal exome of an ovarian fibrosarcoma from a 9-years old child. We found a paucity of mutations (0.77/Mb) and CNV alterations. Of these, the most relevant were a point mutation in the metal-binding site of the microRNA-processing DICER1...

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Source

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Identifiers

PMID: 29459759
DOI: 10.1038/s41598-018-21663-9
PMCID: PMC5818504

Genes

DICER1

Provenance

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