Inherited non-medullary thyroid cancer
Gene: DICER1Comment 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 variantsCreated: 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 180295Created: 31 Jul 2017, 11:05 a.m.
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
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.
Evidence of an association with both benign and malignant disease. Some evidence for screening of individuals at riskCreated: 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
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
All genes have been reviewed and the reviews evaluated. 07.08.2017
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for DICER1 were set to 9345104; 21266384; 28323992
Publications for DICER1 were set to 9345104; 21266384; 28323992
Phenotypes for DICER1 were set to Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 138800; Pleuropulmonary blastoma 601200
Publications for DICER1 were set to 9345104; 21266384; 28323992
Phenotypes for DICER1 were set to Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 138800
DICER1 was added to Inherited non-medullary thyroid cancerpanel. Sources: Radboud University Medical Center, Nijmegen
DICER1 was created by sleigh