Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.E1788fs
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DICER1

NM_177438.3:p.E1788fs

Associated Papers

Primary Intracranial Sarcoma, DICER1-Mutant Presenting as a Pineal Region Tumor Mimicking Pineoblastoma: Case Report and Review of the Literature.

Leelatian N et al.

Journal of Neuropathology and Experimental Neurology, 2022

An Unusual Enteric Yolk Sac Tumor: First Report of an Ovarian Germ Cell Tumor Associated With a Germline Pathogenic Variant in DICER1.

McCluggage WG et al.

International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2022

DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing.

Apellaniz-Ruiz M et al.

Genes, Chromosomes & Cancer, 2021

Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation.

Nakano Y et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

Two cases of primary supratentorial intracranial rhabdomyosarcoma with DICER1 mutation which may belong to a "spindle cell sarcoma with rhabdomyosarcoma-like feature, DICER1 mutant".

Sakaguchi M et al.

Brain Tumor Pathology, 2019

DICER1 mutations are frequent in müllerian adenosarcomas and are independent of rhabdomyosarcomatous differentiation.

Bean GR et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

DICER1 and FOXL2 mutations in ovarian sex cord-stromal tumours: a GINECO Group study.

Goulvent T et al.

Histopathology, 2016

DICER1: mutations, microRNAs and mechanisms.

Foulkes WD et al.

Nature Reviews. Cancer, 2014

DICER1 hotspot mutations in non-epithelial gonadal tumours.

Witkowski L et al.

British Journal of Cancer, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."