Table 1. SMARCA4 mutations identified in germline and tumor DNA from SCCOHT cases.
| Sample | Age at diagnosis (years) | Sequencing analysis performed | SMARCA4 mutation in germline DNA | SMARCA4 mutation in tumor DNA (total predicted SNVs)b | Predicted protein alteration | SMARCA4 IHC |
|---|---|---|---|---|---|---|
| SCCO-002a | 26 | Exome | None | None (2) | None | Negative |
| SCCO-008 | 9 | Exome | c.2935C>T | NA | p.Arg979* | NA |
| SCCO-010 | 6 | Exome | None | NA | None | Positive |
| SCCO-017 | 10 | Exome | c.722_735delGTCCCGGCCCGGCA | NA | p.Gly241fs | Negative |
| SCCO-012 | 21 | Exome | NA | None | None | Negative |
| SCCO-014 | 33 | Exome | NA | c.[2001delG(;) 3481delC] | p.Glu667fs p.Leu1161fs |
NA |
| SCCO-015 | 27 | Exome | NA | c.3565C>T | p.Arg1189* | NA |
| DAH23 | 30 | Exome | NA | c.2438+1_2438+2insTGA | Splice-site mutation | Negative |
| DAH456a | 39 | Exome | None | None (5) | None | Positive |
| DAH457 | 23 | Exome | NA | c.3277C>T | p.Arg1093* | NA |
| DG1006a | 34 | Whole genome | None | c.[2855delA(;) 4771_4774delAGCG] (19) | p.Glu952fs p.Ser1591fs |
Negative |
| DG1219a | 37 | Whole genome | None | c.3168+1G>A (12) | Splice-site mutation | Negative |
| BIN-67 | Tumor cell line | Whole genome | NA | c.[2438+1G>A(;) 2439-2A>T] | 2 splice-site mutations | Negative |
NA, sample not available; IHC, immunohistochemistry.
a
Cases with a sequenced tumor-normal pair.
b
The number of total single-nucleotide variants (SNVs) is indicated only for tumors with a matching normal sample.