ArticleThe Journal of clinical endocrinology and metabolism2017
Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study.
Article in The Journal of clinical endocrinology and metabolism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00565903 (Elucidating the Genetic Basis of the Pleuropulmonary Blastoma), which is not on this map. Cited by 86 papers, 3 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome
Who cites it
86 citing papers in PubMed, 3 syntheses or guidelines pooled it, 170 citations in OpenAlex.
- Mutations of the DICER1 gene among children and adolescents with thyroid cancer: a systematic review.Pediatric research · 2026Pooled it
- DICER1 alterations in thyroid lesions: a systematic review and meta-analysis with clinicopathologic implications.Virchows Archiv : an international journal of pathology · 2026Pooled it
- Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group.Familial cancer · 2021Guideline
- DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.The Journal of clinical investigation · 2020Trial
- Expanding the Phenotypic Spectrum of DICER1 Syndrome: Case Report with Overgrowth, Macrocephaly, Multinodular Goiter, and Lung Cyst.Children (Basel, Switzerland) · 2026Article
- Clinicopathologic and Molecular Features of Poorly Differentiated Thyroid Carcinomas in Adults ≤ 45 Years of Age.Endocrine pathology · 2026Article
- Utilities of next-generation sequencing in the surgical management of thyroid nodules in China.BMC endocrine disorders · 2026Article
- Tracing the molecular route to progression in miRNA-biogenesis-defective thyroid lesions.JCI insight · 2026Article
- Expanding the Molecular Data ofHuman mutation · 2026Article
- Mapping the Natural History of Benign DICER1-Related Lesions and Identifying Predictors of Malignancy.Fortune journal of health sciences · 2026Article
- Unmasking familial follicular cell-derived thyroid neoplasms associated with syndromes: DICER1 and PTEN-hamartoma tumor syndromes.Virchows Archiv : an international journal of pathology · 2026Review
- DICER1 and DGCR8 in thyroid tumorigenesis: miRNA biogenesis and histopathologic diversity.European thyroid journal · 2025Review
- [DICER1-syndrome with manifestation of genital embryonal rhabdomyosarcoma in the first year of life: case report].Problemy endokrinologii · 2025Article
- GPC3: a novel mutated gene in pleuropulmonary blastoma.Discover oncology · 2025Article
- Clinical and genetic features of a family with multinodular goiter harboring a DICER1 c.2035 A >G variant.Thyroid research · 2025Article
- Clinical, molecular and radiological characteristics of thyroid nodules with somatic DICER1 mutations in adults.Endocrine connections · 2025Article
- Paediatric Thyroid Carcinoma: The Genetic Revolution and Its Implications for Therapy and Outcomes.Cancers · 2025Review
- Germline Variants in Pediatric Cancer : Based on Oncogenic Pathways.Journal of Korean Neurosurgical Society · 2025Article
- Prognostic Significance of GermlineJCO precision oncology · 2025Article
- Identification of DICER1 Syndrome on the Basis of Familial, Early-Onset Differentiated Thyroid Cancer.Clinical case reports · 2025Article
26 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 10 institutions in 1 country.
Funding
Abstract
Context: The risk of thyroid cancer and multinodular goiter (MNG) in DICER1 syndrome, a rare tumor-predisposition disorder, is unknown. Objective: To quantify the risk of thyroid cancer and MNG in individuals with DICER1 syndrome. Design: Family-based cohort study. Setting: National Institutes of Health (NIH) Clinical Center (CC). Participants: The National Cancer Institute DICER1 syndrome cohort included 145 individuals with a DICER1 germline mutation and 135 family controls from 48 families. Interventions: Each individual completed a detailed medical history questionnaire. A subset underwent a 3-day evaluation at the NIH CC. Main Outcome Measures: The cumulative incidence of MNG (or thyroidectomy) was quantified using the complement of the Kaplan-Meier product limit estimator. We compared the observed number of thyroid cancers in the NCI DICER1 cohort with matched data from the Surveillance, Epidemiology, and End Results (SEER) Program. We performed germline and somatic (thyroid cancer, MNG) DICER1 sequencing. Results: By the age of 40 years, the cumulative incidence of MNG or thyroidectomy was 75% in women and 17% in men with DICER1 syndrome compared with 8% of control women (P < 0.001) and 0% of control men (P = 0.0096). During 3937 person-years of observation, individuals with DICER1 syndrome had a 16-fold increased risk of thyroid cancer (95% confidence interval, 4.3 to 41; P < 0.05) compared with the SEER rates. Of 19 MNG nodules and 3 thyroid cancers, 16 (84%) and 3 (100%), respectively, harbored germline and somatic pathogenic DICER1 mutations. Conclusions: We propose a model of thyroid carcinogenesis in DICER1 syndrome. Early-onset, familial, or male MNG should prompt consideration of the presence of DICER1 syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.