Prevalence of Pathogenic Germline
DICER1 mutation
DICER1 syndrome
goiter
goitre
hereditary cancer
thyroidectomy
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2021
2021
Historique:
received:
20
06
2021
accepted:
26
07
2021
entrez:
23
9
2021
pubmed:
24
9
2021
medline:
15
2
2022
Statut:
epublish
Résumé
DICER1 syndrome encompasses a variety of benign and malignant manifestations including multinodular goitre, which is the most common manifestation among individuals carrying pathogenic Danish individuals diagnosed with nodular goitre based on thyroidectomy samples in 2001-2016 with the age limit at time of operation being ≤ 25 years were offered germline Six of 46 individuals, 13% (CI [3.3;22.7], p <0.05), diagnosed with nodular goitre on the basis of thyroidectomy samples under the age of 25 years had pathogenic germline variants in We recommend referral of patients thyroidectomised due to goitre aged <21 years and patients thyroidectomised due to goitre aged <25 years with a family history of goitre to genetic counselling. Patients of all ages thyroidectomised due to goitre, who are affected by another DICER1 manifestation should be referred to genetic counselling.
Identifiants
pubmed: 34552563
doi: 10.3389/fendo.2021.727970
pmc: PMC8451242
doi:
Substances chimiques
DICER1 protein, human
EC 3.1.26.3
Ribonuclease III
EC 3.1.26.3
DEAD-box RNA Helicases
EC 3.6.4.13
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
727970Informations de copyright
Copyright © 2021 Altaraihi, Hansen, Santoni-Rugiu, Rossing, Rasmussen, Gerdes and Wadt.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The reviewer KT declared a past collaboration with one of the authors KW to the handling editor.
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