SUO 2016: Germline Implications of Somatic Profiling - Session Highlights

San Antonio, Texas USA ( Mark E. Robson, Memorial Sloan Kettering Cancer Center (MSKCC), discussed somatic profiling in urologic oncology. Multigene panel testing screens for a number of genes at the same time with various panels for particular malignancies. Unfortunately, this is inefficient and costly.

Tumor sequencing provides a source of germline genetic information in both a direct and indirect fashion. In addition, further determining whether tumor sequencing and comparing to germline sequencing may or may not have clinical implications. Which somatic variants do we need to evaluate as possible germ line variants? Finding genes consistent with phenotype are important when determining which alleles are clinically important. High penetrance syndromes in urology are being increasingly explored such as upper tract urothelial carcinoma and Lynch Syndrome. Direct generation of germline information during tumor profiling provides additional information for patient and provider during counseling. In a secondary analysis of 1040 cancer patients in a 76 gene panel at MSKCC, a majority of variants identified were actionable with high penetrance. Consented secondary analysis thus offers a prospect of benefit, however, challenges include consent process, resources for variant curation, post-test result transmission, and longitudinal curation among other potential limitations.

Presented By: Mark E. Robson, Memorial Sloan Kettering Cancer Center (MSKCC)

Written By: Stephen B. Williams, MD and Ashish M. Kamat

17th Annual Meeting of the Society of Urologic Oncology - November 30 -December 2, 2016 – San Antonio, Texas USA