Abstract 5521: Development of a web-based patient registry and DNA repository for pediatric cancer research in individuals with neurofibromatosis type 1
Authors: Johnson Kimberly J. , Hussain Ibrahim , Ferguson Taylor , Gutmann David H. 
Published: August 2012

Abstract
Individuals with hereditary cancer syndromes represent unique study populations to elucidate the genetic, environmental, and clinical factors that influence cancer development and outcome. In this regard, research leveraging these populations has led to landmark discoveries that have advanced our understanding of cancer pathogenesis and prognosis. Neurofibromatosis type 1 (NF1) is one of the most common hereditary cancer syndromes, in which affected individuals are at risk for the development of several benign and malignant cancers. Despite the high frequency of tumorigenesis in this population, factors that predict tumor development and outcomes are poorly defined. To facilitate progress in this area, we have launched the NF1 Patient Registry Initiative (NPRI) and the NF1 Genome Project. The NPRI is a web-based patient-driven registry. Any individual with a NF1 diagnosis is eligible to participate. Participants provide contact information and complete a 30-45 minute questionnaire that captures demographic data, medical history, social history, and inquires whether they are interested in participating in future research studies and providing biological samples. Yearly reminders are sent requesting that participants update their information to allow for longitudinal study of outcomes in this population. From 5/17/2011-11/1/2011, 100 participants have provided contact information, of which 80% have completed the questionnaire. To date, participants include residents of 28 U.S. states and 11 countries spanning 6 continents. The mean age of the participants is 30 years (range 1-77 years), where fifty eight percent are female and 84% are white (race). Approximately half of all participants reported a family history of NF1 (46%). Fourteen pediatric brain cancers (diagnosed &lt;20 years) were reported with a mean diagnosis age of 4 years (range 1-10 years), fifty percent of whom are female. Ninety percent of participants indicated their willingness to be contacted in the future and to provide biological samples for research. The NF1 Genome Project is an initiative developed to collect genomic DNA samples from individuals with NF1 for genome-wide association studies (GWAS). Based on encouraging preliminary GWAS data, future sequencing-based investigations are planned to identify genetic risk modifiers of pediatric tumor susceptibility. To date, a total of 156 participants have provided DNA samples and clinical data. Together, the NPRI and NF1 Genome Project provide unprecedented and viable mechanisms for assembling patients with rare diseases from across the world to discover genomic and non-genomic factors that influence cancer development and progression in a model cancer predisposition syndrome. The insights gained from these studies will not only benefit individuals with NF1, but also serve as foundations for the study of other rare tumor syndromes.
Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 103rd Annual Meeting of the American Association for Cancer Research; 2012 Mar 31-Apr 4; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2012;72(8 Suppl):Abstract nr 5521. doi:1538-7445.AM2012-5521