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Article

Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome.

Familial cancer - 1 Jul 2017

Fremerey Julia, Balzer Stefan, Brozou Triantafyllia, Schaper Joerg, Borkhardt Arndt, Kuhlen Michaela

Abstract excerpt

Germline mutations in the DICER1 gene are associated with an inherited cancer predisposition syndrome also known as the DICER1-syndrome, which is implicated in a broad range of tumors including pleuropulmonary blastoma, ovarian Sertoli-Leydig cell tumors, ciliary body medulloepithelioma (CBME), pituitary blastoma, embryonal rhabdomyosarcoma (eRMS), anaplastic renal sarcoma as well as ocular, sinonasal tumors...

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Identifiers

PMID: 27896549
DOI: 10.1007/s10689-016-9958-5

Genes

DICER1

Variants

Provenance

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