Table 2 Genetic findings using the Oncomine panel for both SRC-FTCs
In silico prediction | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Case no. | Gene | Variant | Chromato-gram allele frequency | Location / transcript | dbSNP | Global MAF | Predict SNP2 | CADD | DANN | FATHMM | FunSeq2 | GWAVA | Tumoral expression (IHC)* |
1 | DDR2 | c.1505-20C > T | 50% | Intronic: NM_006182.2 | rs3738807 | 0.1048 | N | N | N | N | N | D | n.d. |
1 | SMAD4 | c.955 + 58C > T | 50% | Intronic: NM_005359.5 | rs948588 | 0.06 | N | N | N | N | D | D | Positive |
2 | ALK | c.3451-30C > T | 47% | Intronic: NM_004304.4 | rs745932805 | 0.00002 | N | N | D | N | D | N | Focal/weak |
2 | PTEN | c.209 + 11 T > G | 69% | Intronic: NM_000314.6 | Not reported | 0.0 | D | D | D | D | D | D | Positive |