Known Etiology and Molecular Pathogenesis

Pipeline

Somatic SNV (MSK report)

Somatic SNV (preliminary results)

CNV (MSK report)

Did not observe read depth changes at AXIN2 or KIT

Somatic CNV: combine loss of heterozygosity (LOH) and read-depth changes

No evidence for the duplications of AXIN2 or KIT in either LOH or Read Depth

Chr20 trisomy + deletion

Prevalent chromosome arm aneuploidy (CAA)

CNV’s on known cancer driver genes*

KARS duplication

Germline Predisposition Mutations

Somatic LI insertion in gene COMMDIO

Atypical LI retrotransposition

Summary - preliminary results

Preliminary results for sharing