Table 4 SDHB gene sequence and copy number alterations detected by targeted next-generation sequencing in SDH-deficient renal cell carcinomas
Tumor | Gene | Sequence-level alteration | AF (%) | % tumor tissue | Copy number alteration | Published data |
|---|---|---|---|---|---|---|
1 | SDHB | c.137G>A (p.R46Q) | 68 | 90 | One copy loss of chr. 1p including SDHB | Previously reported10 |
3 | SDHB | c.859G>A (p.R242H) | 85 | 80 | One copy loss of chr. 1p including SDHB | Previously reported14 |
5 | SDHB | c.541-2A>G Splice | 62 | 80 | One copy loss of chr. 1p including SDHB | Previously reported10 |
8 | SDHB | c.135C>T (p.R46*) | 72 | 80 | One copy loss of chr. 1p including SDHB | Previously reported10 |
11 | SDHB | Exon 3 deletion | NA | 95 | One copy loss of chr. 1p including SDHB | Previously reported10 |
