Table 2 Biopsy next-generation genomic sequencing results
StudyID | Somatic Mutations | Copy Number Variations | ||
|---|---|---|---|---|
Gene | Mutation | Functional Impact | ||
2 | SRC TP53 | p.P171L p.R158H | Uncertain Uncertain | AR amplification |
5 | EGFR NOTCH2 TP53 | p.A289V p.C342R p.M237I | Uncertain Likely pathogenic Pathogenic | MAP2K1, PTEN deep deletion AR, FANCB amplification |
6 | CDK12 | p.G162W | Uncertain | MAP2K1, PTEN deep deletion AR, FANCB amplification |
9 | TP53 | c.258 + 1G > A | Pathogenic | - |
10 | FANCG WT1 | C308-1G p.H359D | Pathogenic Uncertain | - |
12 | - | PIK3R1, PTEN deep deletion | ||
14 | - | MAP2K4, NOTCH1, PTEN deep deletion AR amplification | ||
15 | PIK3CA FANCA | p.E545K p.S132R | Pathogenic Uncertain | - |
16 | PDGFRA TP53 | p.I317T p.R273C | Uncertain Pathogenic | - |
17 | XPC | c.104-2 A > G | Pathogenic | - |
19 | AR ATM BLM FANCC FANCF MAP3K1 MSH6 RECQL4 | p.T878A p.T1743I p.F663I p.R555Q p.A186V p.D1170del p.R1334W p.G120R | Pathogenic Likely pathogenic Uncertain Likely benign Benign Uncertain Pathogenic Likely benign | AR, ATRX, RECQL4 amplification |
20 | BRCA2 PIK3CA TP53 | p.I1859Kfs*3 p.E545K p.R282W | Pathogenic Pathogenic Pathogenic | AR amplification |