To evaluate the clinical impact of the Canadian criteria for identifying patients and families at risk for hereditary renal cell carcinoma (RCC).
The Canadian hereditary RCC risk criteria were applied to patients from 16 centres in the Canadian Kidney Cancer information system (CKCis) prospective database. The primary end point was the proportion of patients who met at least one criterion.
Between January 2011 and May 2017, 8388 patients were entered in the database; 291 had inadequate risk data; 2827 (35%) met at least one criterion for genetic testing (at-risk population). Most (83%) met just one criterion. The criterion of non-clear cell histology contributed the largest proportion of at-risk patients (59%), followed by age ≤ 45 years (28%). Sixty-one patients had documentation of genetic testing, with 56 being classified at-risk (2% of at-risk). Twenty patients (35%) of the patients at risk and tested for hereditary RCC were found to harbour a germline mutation.
Application of the Canadian hereditary RCC risk criteria to a large prospective database resulted in 35% of patients being identified at risk for hereditary RCC who could qualify for genetic testing. However, the true incidence of hereditary RCC in this population is unknown as most patients did not have documented genetic testing carried out and, thus, the sensitivity and specificity of the criteria cannot be determined. The low proportion of at-risk patients who underwent genetic testing is disappointing and highlights that there may be gaps in reporting, knowledge and/or barriers in access to genetic testing.
Clinical oncology (Royal College of Radiologists (Great Britain)). 2019 Aug 01 [Epub ahead of print]
I Kushnir, L Kirk, R Mallick, R H Kim, G E Graham, R H Breau, J-B Lattouf, P D Violette, S E Pautler, M Care, A Kapoor, M A S Jewett, L Wood, S Tanguay, D Y C Heng, N S Basappa, A So, F Pouliot, N M Reaume
The Ottawa Hospital Cancer Centre and University of Ottawa, Ottawa, Ontario, Canada; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: ., Ottawa Hospital Research Institute, Ottawa, Ontario, Canada., University Health Network, Toronto, Ontario, Canada., Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Division of Urology and the University of Ottawa, Ottawa, Ontario, Canada., Department of Surgery, Centre Hospitalier de l’Université de Montréal, Montreal, Quebec, Canada., Department of Health Research Methods, Evidence and Impact (HEI), McMaster University, Hamilton, Ontario, Canada; Department of Surgery, McMaster University, Hamilton, Ontario, Canada; Division of Urology, Department of Surgery, Western University, London, Ontario, Canada., Department of Surgery, Western University, London, Ontario, Canada; Department of Oncology, Western University, London, Ontario, Canada., Juravinski Cancer Centre, McMaster University, Hamilton, Ontario, Canada., Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada., Division of Medical Oncology, Queen Elizabeth II Health Sciences Centre, Halifax, Nova Scotia, Canada., Division of Urology, McGill University, Montreal, Quebec, Canada., Tom Baker Cancer Centre, University of Calgary, Calgary, Alberta, Canada., Cross Cancer Institute, University of Alberta, Edmonton, Alberta, Canada., Vancouver Prostate Centre, University of British Columbia, Vancouver, British Columbia, Canada., Laval University, Quebec City, Quebec, Canada., Division of Medical Oncology, The Ottawa Hospital Cancer Centre and the University of Ottawa, Ottawa, Ontario, Canada.