Inherited non-medullary thyroid cancer

Gene: DICER1

Green List (high evidence)

DICER1 (dicer 1, ribonuclease III)
EnsemblGeneIds (GRCh38): ENSG00000100697
EnsemblGeneIds (GRCh37): ENSG00000100697
OMIM: 606241, Gene2Phenotype
DICER1 is in 10 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.

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

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.

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

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

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

All genes have been reviewed and the reviews evaluated. 07.08.2017

31 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Jul 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DICER1 were set to 9345104; 21266384; 28323992

31 Jul 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DICER1 were set to 9345104; 21266384; 28323992

31 Jul 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DICER1 were set to Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 138800; Pleuropulmonary blastoma 601200

31 Jul 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DICER1 were set to 9345104; 21266384; 28323992

31 Jul 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DICER1 were set to Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 138800

18 May 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

DICER1 was added to Inherited non-medullary thyroid cancerpanel. Sources: Radboud University Medical Center, Nijmegen

18 May 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

DICER1 was created by sleigh