Table 2 Genetic alterations detected in the tumor.
From: A BRCA2 germline mutation and high expression of immune checkpoints in a TNBC patient
SOMATIC MUTATIONS | ||||
|---|---|---|---|---|
Gene | Position | Original AA | Alteration | VAF |
EPHA3 | 806 | Asp | Asn | 22% |
TP53 | 214 | His | Frameshift | 29.80% |
BAP1 | 51–53 | – | Deletion | 21.30% |
MYB | 603 | Pro | Arg | 14.50% |
GERMLINE MUTATIONS | ||||
|---|---|---|---|---|
Symbol | Feature ID | Effect | Nchange | AAChange |
BRCA2 | ENST00000544455.5 | Splice donor variant & intron variant | c.516+1 G > C (intron variant) | p.Leu1839Ser |
