Downloaded from https://academic.oup.com/jnci/article-abstract/110/11/1279/4965061 by Ed 'DeepDyve' Gillespie user on 20 November 2018 JNCI J Natl Cancer Inst (2018) 110(11): djy054 doi: 10.1093/jnci/djy054 First published online April 9, 2018 Response Heidi A. Hanson, Christopher Martin, Claire L. Leiser, Brock O’Neil, Ken R. Smith See the Notes section for the full list of authors’ afﬁliations. Correspondence to: Heidi A. Hanson, PhD, MS, Department of Surgery, University of Utah, 2000 Circle of Hope, #1501, Salt Lake City, UT 84121 (e-mail: heidi.hanson@ hci.utah.edu). Our research team acknowledges some of the limitations observed familial risk pattern that suggests behavioral mecha- highlighted by Hemminki and colleagues (specifically the low nisms, such as smoking, we can further refine this phenotypic prevalence of variant histology and the weak impact of smok- definition and generate more homogenous clusters of the famil- ing), which we previously addressed in our article. The purpose ial patterns of cancer risk. Identifying more precise definitions of our study was to better characterize the pattern of familial of cancer phenotypes that include bladder cancer is essential cancer risk (both concordant and discordant) in relatives of uro- for improving the understanding of the etiology associated with thelial cancer patients. This is part of a larger goal of defining a patterns of familial cancer clustering in a heterogeneous dis- phenotype of cancer across anatomic sites that includes bladder ease such as bladder cancer. We are fortunate to be able to con- cancer. Central to this work is making analytic decisions that re- tribute to the evolution of the understanding of patterns of duce phenotypic heterogeneity, such as excluding variant his- cancer clustering in families, an iterative process that requires tology. Squamous cancer is remarkably distinct in its biology, the validation of previously reported findings in multiple pop- epidemiology, and treatment. While the relative frequency of ulations, extending current knowledge by testing for differential squamous cell carcinoma is low, and therefore does not drive effects across subpopulations or disease patterns. Our team is the observed associations, removing it allows us to refine this excited to be working on a project that furthers the work pre- phenotypic definition. To do this, we excluded 6462 individuals sented in our article in the Journal. We are hopeful that this on- from the analysis: 1869 individuals with a bladder cancer diag- going work will contribute to the scientific understanding of nosis that was not the first primary, 368 individuals with non- bladder cancer. urothelial bladder cancer, 4217 individuals with kidney and renal cancer, and eight ureteral cases. Phenotypic definitions of cancer can be further refined by Notes considering the genetic and environmental underpinnings po- Affiliations of authors: Division of Urology, Department of tentially underlying the observed patterns. Families share ge- Surgery (HAH, CM, BON), Population Sciences (HAH, CLL, KRS), netic and environmental factors that contribute to cancer risk, and both of these factors may contribute to differential patterns Huntsman Cancer Institute, and Department of Family and of familial cancer clustering. By excluding families with an Consumer Studies (KRS), University of Utah, Salt Lake City, UT. Received: February 20, 2018; Accepted: March 2, 2018 © The Author(s) 2018. Published by Oxford University Press. All rights reserved. For permissions, please email: firstname.lastname@example.org CORRESPONDENCE
JNCI: Journal of the National Cancer Institute – Oxford University Press
Published: Nov 1, 2018
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