Canadian guideline on genetic screening for hereditary renal cell cancers

  • M. Neil Reaume Division of Medical Oncology, The Ottawa Hospital Cancer Centre and the University of Ottawa, Ottawa, Ontario
  • Gail E. Graham Eastern Ontario Regional Genetics Program, Children's Hospital of Eastern Ontario and the University of Ottawa, Ottawa, Ontario
  • Eva Tomiak Eastern Ontario Regional Genetics Program, Children's Hospital of Eastern Ontario and the University of Ottawa, Ottawa, Ontario
  • Suzanne Kamel-Reid Molecular Diagnostics, Department of Pathology, The University Health Network, University of Toronto ,Toronto, Ontario
  • Michael A.S. Jewett Division of Urology, Departments of Surgical Oncology and Surgery, Princess Margaret Cancer Centre and the University Health Network, University of Toronto, Toronto, Ontario
  • Georg A Bjarnason Division of Medical Oncology/Hematology, Sunnybrook Odette Cancer Centre, University of Toronto, Toronto, Ontario
  • Normand Blais Division of Hematology/Oncology, Centre Hospitalier de l'Université de Montréal, Montreal, Quebec
  • Melanie Care Fred A. Litwin Family Centre in Genetic Medicine, University Health Network & Mount Sinai Hospital, Toronto, Ontario
  • Darryl Drachenberg Section of Urology, Department of Surgery, 
University of Manitoba, Winnipeg, Manitoba
  • Craig Gedye Ontario Cancer Institute, Princess Margaret Cancer Centre and the University Health Network, Toronto, Ontario
  • Ronald Grant Division of Haematology/Oncology, Department of Paediatrics, University of Toronto, Toronto, Ontario
  • Daniel Y.C. Heng Department of Medical Oncology, Tom Baker Cancer Center, and the University of Calgary, Calgary, Alberta
  • Anil Kapoor McMaster Institute of Urology, Division of Urology, Department of Surgery, McMaster University, Hamilton, Ontario
  • Christian Kollmannsberger Division of Medical Oncology, British Columbia Cancer Agency-Vancouver Cancer Centre, and the Univeristy of British Columbia, Vancouver, British Columbia
  • Jean-Baptiste Lattouf Department of Surgery, Centre Hospitalier de l'Université de Montréal, Montreal, Quebec
  • Eamonn R. Maher Department of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge
  • Arnim Pause Department of Biochemistry, McGill University, Montreal, Quebec
  • Dean Ruether Department of Medical Oncology, Tom Baker Cancer Center, and the University of Calgary, Calgary, Alberta
  • Denis Soulieres Division of Hematology/Oncology, Centre Hospitalier de l'Université de Montréal, Montreal, Quebec
  • Simon Tanguay Division of Urology, McGill University, Montreal, Quebec
  • Sandra Turcotte Department of Chemistry and Biochemistry, Universite de Moncton, Moncton, New Brunswick
  • Philippe D. Violette Division of Urology, Department of Surgery, Western University, London, Ontario
  • Lori Wood Division of Medical Oncology, Queen Elizabeth II Health Sciences Centre, Halifax, Nova Scotia
  • Joan Basiuk Kidney Cancer Research Network of Canada, Toronto, Ontario
  • Stephen E. Pautler Division of Urology, Department of Surgery and Division of Surgical Oncology, Department of Oncology, Western University, London, Ontario
Keywords: Hereditary Renal Cancer Associated 1, Carcinoma, Renal Cell, screening, genetic testing,

Abstract

Background: Hereditary renal cell cancer (RCC) is an ideal model for germline genetic testing. We propose a guideline of hereditary RCC specific criteria to suggest referral for genetic assessment.

Methods: A review of the literature and stakeholder resources for existing guidelines or consensus statements was performed. Referral criteria were developed by expert consensus.

Results: The criteria included characteristics for patients with RCC (age ≤45 years, bilateral or multifocal tumours, associated medical conditions and non-clear cell histologies with unusual features) and for patients with or without RCC, but a family history of specific clinical or genetic diagnoses.

Conclusions: This guideline represents a practical RCC-specific reference to allow healthcare providers to identify patients who may have a hereditary RCC syndrome, without extensive knowledge of each syndrome. RCC survivors and their families can also use the document to guide their discussions with healthcare providers about their need for referral. The criteria refer to the most common hereditary renal tumour syndromes and do not represent a comprehensive or exclusive list. Prospective validation of the criteria is warranted.

Published
2013-10-09
How to Cite
Reaume, M., Graham, G., Tomiak, E., Kamel-Reid, S., Jewett, M., Bjarnason, G., Blais, N., Care, M., Drachenberg, D., Gedye, C., Grant, R., Heng, D., Kapoor, A., Kollmannsberger, C., Lattouf, J.-B., Maher, E., Pause, A., Ruether, D., Soulieres, D., Tanguay, S., Turcotte, S., Violette, P., Wood, L., Basiuk, J., & Pautler, S. (2013). Canadian guideline on genetic screening for hereditary renal cell cancers. Canadian Urological Association Journal, 7(9-10), 319-23. https://doi.org/10.5489/cuaj.1496
Section
Clinical Practice Guideline