Table 1 Somatic KMT2D-truncating mutations detected in sequenced aGCT cohorts
Sample | Cohort | Platform | FOXL2 c.C402G hotspot | Tumor type | KMT2D-truncating mutations | |
|---|---|---|---|---|---|---|
Nucleotide change | Protein change | |||||
GCT003 | Exploratory | WES | Detected | Recurrent | c.7850dupC | p.Pro2617fs |
GCT005 | Exploratory | WES | Detected | Recurrent | c.3299dupA | p.Asp1100fs |
GCT009 | Exploratory | WES | Detected | Recurrent | c.15059delT | p.Lys5020fs |
GCT014 | Exploratory | WES | Detected | Recurrent | c.11958_11959del | p.Ser3986fs |
GCT017 | Exploratory | WES | Detected | Recurrent | c.9416_9419del | p.Pro3139fs |
KGN | Cell line | DAS | Detected | Recurrent18 | c.4085delA | p.Asn1362fs |
GCT047 | Validation | Panel Sequencing | Detected | Recurrent | c.2277_2281del | p.Pro759fs |
GCT062 | Validation | Panel Sequencing | Detected | Recurrent | c.2993delC | p.Pro998fs |
GCT069 | Validation | Panel Sequencing | Detected | Recurrent | c.4418 + 1G > A | Splicing |
GCT071 | Validation | Panel Sequencing | Detected | Primary | c.529_547del | p.Arg177fs |
GCT072 | Validation | Panel Sequencing | Detected | Recurrent | c.C12715T | p.Gln4239X |
GCT083 | Validation | Panel Sequencing | Detected | Recurrent | c.G2593T | p.Glu865X |
