Extended Data Fig. 10Figure 14
Multi-site genomic profiling from rapid autopsy of a g BRCA2 carrier. a , Oncoprint summarizing targeted sequencing (MSK-IMPACT) of tumors collected at rapid autopsy as well as prior clinical biopsies from the same patient. Each column represents an individual tumor sample, grouped by clinical versus autopsy samples. Of note, an RB1 splice variant was detected exclusively in chest wall biopsy 2, performed in the clinical setting. This alteration was not identified in subsequent clinical or autopsy samples, despite deep targeted sequencing and genotyping of the sequencing reads. b , PDXs were created from two distinct metastatic deposits, both in the left upper lung. One sample demonstrated a large deletion (spanning from 32,910,896 to 32,912,390), resulting in a truncating mutation and conferring BRCA2 protein loss (PDX-L). Another sample demonstrated an in-frame deletion which encompassed the site of the original PV, resulting in restoration of the reading frame and a predicted