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Germline DICER1 mutations and familial cystic nephroma
  1. Amin Bahubeshi1,2,
  2. Nebil Bal3,
  3. Thomas Rio Frio1,4,
  4. Nancy Hamel1,4,
  5. Carly Pouchet1,2,
  6. Ahmet Yilmaz1,2,4,
  7. Dorothée Bouron-Dal Soglio5,
  8. Gretchen M Williams6,
  9. Marc Tischkowitz1,2,
  10. John R Priest6,
  11. William D Foulkes1,2,4
  1. 1Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada
  2. 2Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Quebec, Canada
  3. 3Department of Pathology, Baskent University Faculty of Medicine, Ankara, Turkey
  4. 4The Research Institute, McGill University Health Centre, Montreal, Quebec, Canada
  5. 5Department of Pathology, CHU Sainte Justine, Montréal, Québec, Canada
  6. 6The International Pleuropulmonary Blastoma Registry, St Paul, Minnesota, USA
  1. Correspondence to Dr William D Foulkes, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, 3755 Côte St-Catherine, Montreal QC H3T 1E2, Canada; william.foulkes{at}


Background Multilocular cystic nephroma (CN) is a benign kidney tumour and is part of a family of kidney neoplasms including cystic partially differentiated nephroblastoma and Wilms tumour (WT). CN is rarely familial or bilateral, but it occurs in about 10% of families where pleuropulmonary blastoma (PPB) is present. Recently, germline mutations in DICER1 were found in familial PPB.

Objective To search for DICER1 mutations in two families with familial CN; PPB was present in one family. Additionally, to test germline DNA from 50 children with sporadic WT for DICER1 mutations.

Results Both families with multiple CN were found to have mutations in DICER1 leading to premature stop codons, predicted to result in loss of the ribonuclease and dsRNA binding domains. These domains are essential to the function of DICER1. No germline mutations were found in any of the 50 children who had developed WT.

Conclusion It has been established that DICER1 mutations cause familial CN and may be implicated in bilateral CN. No germline mutations were found in the patients with WT, suggesting that DICER1 mutations are unlikely to have a major role in the aetiology of sporadic WT. These results provide further evidence implicating miRNA dysregulation in tumourigenesis.

  • Kidney
  • Wilms tumour
  • hereditary
  • miRNA
  • pleuropulmonary blastoma
  • clinical genetics
  • molecular genetics
  • screening
  • renal medicine
  • genetic epidemiology

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  • Funding AB is supported by the CIHR/FRSQ training grant in cancer research FRN53888 of the McGill Integrated Cancer Research Training Program. WDF and MT are grateful to the Turner Cancer Research Fund for support. WDF holds a Fonds de la Recherche en Santé du Québec (FRSQ) national scientist award and MT holds a FRSQ clinician-scientist award. TRF was funded by the Research Institute of the McGill University Health Centre and by the Henry R. Shibata Fellowship of the Cedars Cancer Institute. JRP is supported by the Pine Tree Apple Tennis Classic and the Theodora H. Lang Charitable Trust.

  • Competing interests John R. Priest is named in a patent registration involving genetic sequencing methodology of DICER1 gene.

  • Ethics approval This study was conducted with the approval of McGill University in Montreal, Canada and Bashkent University in Ankara, Turkey.

  • Provenance and peer review Not commissioned; externally peer reviewed.