Table 3.
Sample id | Gene | Mutation location | Coding | Protein | Function | MUT allele freq blood | MUT allele freq T1 | MUT allele freq T2 | COSMIC for the present mutation |
---|---|---|---|---|---|---|---|---|---|
BIL-006 | FGFR3 | T1, T2 | c.1345C>T | p.Pro449Ser | Missense | 0.52 | 0.5 | Not registered | |
BIL-013*,$ | TP53 | T1, T2 | c.818G>C | p.Arg273Pro | Missense | 0.35 | 0.76** | COSM165077 | |
BIL-017 | PIK3CA | T1, T2 | c.3140A>G | p.His1047Arg | Missense | 0.3 | 0.22 | COSM94986 | |
BIL-028 | ERBB2 | T1, T2 | c.2909G>A | p.Arg970Gln | Missense | 0.63 | 0.55 | Not registered | |
BIL-033 | NOTCH1 | T1, T2 | c.6106G>A | p.Ala2036Thr | Missense | 0.23 | 0.28 | COSMIC: p.A2036V | |
BIL-035 | MAP3K1 | T1, T2 | c.2012C>T | p.Ala671Val | Missense | 0.41 | 0.48 | COSM3674469 | |
BIL-042*,$ | TP53 | BL, T1, T2 | c.1021T>G | p.Phe341Val^ | Missense | 0.51 | 0.58 | 0.84** | Not registered, p.R342*; p.R342P |
BIL-062 | TP53 | T1, T2 | c.6061G>A | p.Val2021Ile | Missense | 0.43 | 0.4 | Not registered | |
BIL-064 | MLL3 | T1, T2 | c.14732A>G | p.Asn4911Ser | Missense | 0.51 | 0.64 | Not registered | |
BIL-067$ | TP53 | T1, T2 | c.856_857delGA | p.Glu286fs | Frameshift/Deletion | 0.26 | 0.31 | Not registered | |
BIL-020 | FOXM1 | BL | c.490C>T | p.Arg164Trp | Missense | 0.47 | COSM1476487 | ||
BIL-020 | APOBEC3B | BL | c.568A>G | p.Arg190Gly | Missense | 0.52 | Not registered | ||
BIL-048 | EGFR | BL^^ | c.3244A>T | p.Ile1082Leu | Missense | 0.49 | Not registered |
shared TP53 mutation in blood (BL) and in both tumors (T1, T2).
metachronous cases, one with common blood/tumor TP53 mutation.
cases with germline mutations found upon testing for cancer predisposing genes.
increased VAF indicating loss of the wild-type allele in the metachronous tumor.
non-informative amplicons and positions in the tumors of this case.