Journal of Genetic Counseling

, Volume 26, Issue 3, pp 548–555 | Cite as

Prevalence and Characteristics of Patients with Suspected Inherited Renal Cell Cancer: Application of the ACMG/NSGC Genetic Referral Guidelines to Patient Cohorts

  • Hong Truong
  • Sarah E. Hegarty
  • Leonard G. Gomella
  • William K. Kelly
  • Edouard J. Trabulsi
  • Costas D. Lallas
  • Veda N. Giri
Original Research


Patients with suspected hereditary renal cell cancer (RCC) are under-referred for genetic evaluation. Characterizing the prevalence and characteristics of suspected inherited RCC is a crucial step toward advancing personalized, genetically-based cancer risk management for patients and their families. To evaluate the prevalence and characteristics of suspected inherited RCC syndromes based on consensus criteria, we performed a cross-sectional analysis of patients with a diagnosis of RCC in SEER (2001–2011, n = 105,754) and in our institutional cancer registry (2004–2013, n = 998). Consensus criteria for referral of patients with RCC for genetic evaluation from the American College of Medical Genetics and Genomics and National Society of Genetic Counselors (ACMG/NSGC) were applied to the two cohorts. The associations between meeting referral criteria with demographic characteristics were assessed with chi-square tests. Overall, 24.0 % of the SEER cohort and 33.7 % of our institutional cohort met ACMG/NSGC referral criteria for genetic counseling. While white patients more commonly met early onset clear cell RCC criteria, black patients met papillary RCC criteria at twice the rate of whites in both cohorts (p < 0.0001). As many as 1 in 5 individuals with RCC meet referral criteria for genetic evaluation based on newly emerging guidelines, with differences in pathology noted by race. Prospective genetic testing studies utilizing emerging referral guidelines should help to refine the genetic spectrum of inherited kidney cancer. This study supports efforts to increase awareness of referral of patients with RCC for genetic counseling particularly among urologic providers.


Kidney cancer Genetic counseling Race Hereditary cancer syndromes 



This project was supported by institutional funding from Sidney Kimmel Cancer Center of Thomas Jefferson University. We would like to thank Fran Guiles from the Thomas Jefferson University Hospital cancer registry staff for data collection. Veda N. Giri and Hong Truong had full access to all of the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis.

Compliance with Ethical Standards

Conflict of Interest

Hong Truong, Sarah E. Hegarty, Leonard G. Gomella, William K. Kelly, Edouard J. Trabulsi, Costas D. Lallas, and Veda N. Giri declare that they have no conflict of interest.

Human Studies and Informed Consent

This study does not include human subjects. All data were abstracted from institutional and national cancer registries which did not contain any patient identifying information. The study was IRB-approved at Thomas Jefferson University.

Animal Studies

This article does not contain any studies with animals performed by any of the authors.


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Copyright information

© National Society of Genetic Counselors, Inc. 2017

Authors and Affiliations

  • Hong Truong
    • 1
  • Sarah E. Hegarty
    • 2
  • Leonard G. Gomella
    • 1
  • William K. Kelly
    • 3
  • Edouard J. Trabulsi
    • 1
  • Costas D. Lallas
    • 1
  • Veda N. Giri
    • 4
  1. 1.Department of Urology, Sidney Kimmel Cancer CenterThomas Jefferson University HospitalPhiladelphiaUSA
  2. 2.Division of Biostatistics, Department of Pharmacology and Experimental TherapeuticsThomas Jefferson University HospitalPhiladelphiaUSA
  3. 3.Department of Medical Oncology, Sidney kimmel Cancer CenterThomas Jefferson UniversityPhiladelphiaUSA
  4. 4.Cancer Risk Assessment and Clinical Cancer Genetics Program, Sidney Kimmel Cancer CenterThomas Jefferson University HospitalPhiladelphiaUSA

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