Inherited non-medullary thyroid cancer
Gene: DICER1

DICER1 (dicer 1, ribonuclease III)
EnsemblGeneIds (GRCh38): ENSG00000100697
EnsemblGeneIds (GRCh37): ENSG00000100697
OMIM: 606241, Gene2Phenotype
DICER1 is in 11 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 138800 in OMIM and as a confirmed G2P condition. At least 5 variants reported.
Created: 31 Jul 2017, 11:40 a.m.

Comment on list classification: Increasing evidence for presence of thyroid carcinogenesis MNG patients with DICER1 variants
Created: 31 Jul 2017, 11:39 a.m.

Comment on publications: Multinodular Goiter individuals with DICER1 variants have 16- to 24-fold increase in the risk of thyroid cancer compared with the expected incidence in the SEER data (PMID: 28323992)
Created: 31 Jul 2017, 11:37 a.m.

Comment on publications: DICER1 variants associated with non-toxic thyroid cysts/multinodular colloid goitre with normal thyroid function, and non-malignant (PMID 21266384).
Created: 31 Jul 2017, 11:33 a.m.

Comment on phenotypes: Variants also associated with Pleuropulmonary blastoma 601200; Rhabdomyosarcoma, embryonal, 2 180295
Created: 31 Jul 2017, 11:05 a.m.

Created: 31 Jul 2017, 11:05 a.m.

Panel version: 0.35

Ellen McDonagh (Genomics England Curator)

This gene was determined as DEFINITIVE by ClinGen for Pleuropulmonary Blastoma (ORPHA64742, OMIM 601200).

Created: 23 Jun 2017, 2:50 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 23 Jun 2017, 2:50 p.m.

Panel version: 0.14

Emma Woodward (Manchester Centre for Genomic Medicine)

Green List (high evidence)

There is evidence of germline DICER1 mutations being associated with NMTC (in addition to benign thryoid disease). I would include and would offer thyroid surveillance should a germline mutation be found.
Created: 13 Jun 2017, 1:52 p.m.

Created: 13 Jun 2017, 1:52 p.m.

Panel version: 0.5

Fiona Lalloo (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Evidence of an association with both benign and malignant disease. Some evidence for screening of individuals at risk
Created: 9 Jun 2017, 9:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
pleuropulmonaryblastoma; multinodular goitre; ovarian sertoli-leydig timour, cystic nephroma; non-medullary thyroid carcinoma

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Jun 2017, 9:07 a.m.

Panel version: 0.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800

OMIM

606241

Clinvar variants

Variants in DICER1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

2 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DICER1 were changed from Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 138800; Pleuropulmonary blastoma 601200 to Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800

7 Aug 2017, Gel status: 4