title: Prevalence and Characteristics of Patients with Suspected Inherited Renal Cell Cancer: Application of the ACMG/NSGC Genetic Referral Guidelines to Patient Cohorts.
abstract: 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.
authors.affiliation: Department of Urology, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, USA.
authors.forename: Hong
authors.initials: H
authors.lastname: Truong
authors.affiliation: Division of Biostatistics, Department of Pharmacology and Experimental Therapeutics, Thomas Jefferson University Hospital, Philadelphia, PA, USA.
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Hegarty
authors.affiliation: Department of Urology, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, USA.
authors.forename: Leonard G
authors.initials: LG
authors.lastname: Gomella
authors.affiliation: Department of Medical Oncology, Sidney kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA, USA.
authors.forename: William K
authors.initials: WK
authors.lastname: Kelly
authors.affiliation: Department of Urology, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, USA.
authors.forename: Edouard J
authors.initials: EJ
authors.lastname: Trabulsi
authors.affiliation: Department of Urology, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, USA.
authors.forename: Costas D
authors.initials: CD
authors.lastname: Lallas
authors.affiliation: Cancer Risk Assessment and Clinical Cancer Genetics Program, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, USA. Veda.Giri@jefferson.edu.
authors.forename: Veda N
authors.initials: VN
authors.lastname: Giri
mesh_terms: D001741:Black or African American; D000368:Aged; D002292:Carcinoma, Renal Cell / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007680:Kidney Neoplasms / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D017410:Practice Guidelines as Topic; D015995:Prevalence; D012017:Referral and Consultation; D044465:White People
keywords: Genetic counseling; Hereditary cancer syndromes; Kidney cancer; Race