470 Investigating modifiers of cutaneous neurofibroma development in adults with neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a multi-system genetic disorder involving the cutaneous, nervous, hematopoietic, ocular, and skeletal systems. Almost all individuals with NF1 (>95%) develop benign dermal tumors called cutaneous neurofibromas (cNFs) which frequently lead to significant physical social morbidity. cNFs exhibit high variability in number, subtype, growth rate, anatomic location. Despite substantial research into molecular drivers of cNFs, genotypic-phenotypic correlation factors modulate cNF development are not well understood. To address this, we have created biobank surveys, skin photographs data from NF1. 1150 participants aged 40 or older being recruited US, Canada, Europe provide quality life using validated tools, photographs, saliva samples for whole genome sequencing. Thus far, 430 provided survey data, 265 217 submitted samples. Preliminary analysis suggests positive between age self-reported number cNFs. There no gender cNF, development, diagnosis. Ongoing analyses include correlating participant self-report their burden investigator assessment clinical photography assess accuracy self-reporting diagnostic monitoring purposes. We aim conduct large-scale GWAS elucidate that might explain phenotypic people An understanding these will inform pathogenesis tumors, serve as biomarkers individual risk stratification, guide future trial design.