ArticleFamilial cancer2017
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome.
Article in Familial cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- 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
- Article
- DICER1 syndrome in a young adult with pituitary blastoma.Acta neuropathologica · 2021Article
- Clinicopathologic and molecular analysis of embryonal rhabdomyosarcoma of the genitourinary tract: evidence for a distinct DICER1-associated subgroup.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Article
- Gynecologic and reproductive health in patients with pathogenic germline variants in DICER1.Gynecologic oncology · 2020Article
- Expanding the spectrum of dicer1-associated sarcomas.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
- DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk.Frontiers in oncology · 2020Review
- Imaging of DICER1 syndrome.Pediatric radiology · 2019Review
- Family-based germline sequencing in children with cancer.Oncogene · 2019Review
- DICER1 Syndrome: DICER1 Mutations in Rare Cancers.Cancers · 2018Review
- Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES.European journal of pediatrics · 2018Observational
- New roles for Dicer in the nucleolus and its relevance to cancer.Cell cycle (Georgetown, Tex.) · 2017Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline mutations in the DICER1 gene are associated with an inherited cancer predisposition syndrome also known as the DICER1-syndrome, which is implicated in a broad range of tumors including pleuropulmonary blastoma, ovarian Sertoli-Leydig cell tumors, ciliary body medulloepithelioma (CBME), pituitary blastoma, embryonal rhabdomyosarcoma (eRMS), anaplastic renal sarcoma as well as ocular, sinonasal tumors ovarian sex-cord tumors, thyroid neoplasia and cystic nephroma. This study describes a novel, heterozygous frameshift DICER1 mutation in a patient, who is affected by different tumors of the DICER1-syndrome, including eRMS, CBME and suspected pleuropulmonary blastoma type I. By whole-exome sequencing of germline material using peripheral blood-derived DNA, we identified a single base pair duplication within the DICER1 gene (c.3405 dupA) that leads to a frameshift and results in a premature stop in exon 21 (p.Gly1136Arg). The metachronous occurrence of two unrelated tumor entities (eRMS and CBME) in a very young child within a short timeframe should have raised the suspicion of an underlying cancer susceptibility syndrome and should be prompt tested for DICER1.
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