Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.Q1702*
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DICER1

NM_177438.3:p.Q1702*

Associated Papers

Contribution of Germline Predisposition to Pediatric Thyroid Cancer.

Harrison C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.

Kommoss FKF et al.

Nature Communications, 2023

36966138 (PubMed )
Supplement: 41467_2023_37092_MOESM6_ESM.xlsx › Tabelle1

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.

Hatton JN et al.

Human Mutation, 2023

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

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 Syndrome: DICER1 Mutations in Rare Cancers.

Robertson JC et al.

Cancers, 2018

Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model.

Brenneman M et al.

F1000research, 2015

A novel DICER1 mutation identified in a female with ovarian Sertoli-Leydig cell tumor and multinodular goiter: a case report.

Rossing M et al.

Journal of Medical Case Reports, 2014

DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome.

Doros L et al.

Pediatric Blood & Cancer, 2012

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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."