<p>Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. While these malignancies display aberrant myogenic differentiation, relatively little is known about genetic susceptibility to RMS, or how genetic variants influence subsequent somatic events and may be used in risk stratification strategies. A small percentage of cases are associated with mutations in TP53 (Li-Fraumeni syndrome), HRAS (Costello syndrome), and PTCH1 (nevoid basal cell carcinoma syndrome/Gorlin syndrome), suggesting the genetic origins of childhood RMS. In spite of this, little work has been done to characterize genetic susceptibility to this malignancy. We plan to leverage samples collected as part of <a href="https://clinicaltrials.gov/ct2/show/NCT00919269?term=NCT00919269&#x26;draw=2&#x26;rank=1">D9902 </a>to conduct one of the largest germline genomic studies of RMS. We anticipate that once genetic associations are identified, researchers can use the information to develop better strategies to detect, treat, and prevent childhood RMS.</p>

ARST17B2-Q Germline and Somatic Genetic Landscape of Pediatric    Rhabdomyosarcoma

Rhabdomyosarcoma study with SNP Genotypes (Array) data on dbGaP (920 participants)