Table 2.
Sequencing of VHL gene exons in ccRCC specimens
| ID | Exon | VHL status (DNA) | VHL status (amino acids) | Mutation type | COSMIC-ID |
|---|---|---|---|---|---|
| ccRCC2 | 1 | c.332G>T/+ | VHLp.S111I/+ | Missense substitution | COSM36341 |
| ccRCC3 | 2a | c.420_439del20/+ | p.N141fs25/+ | Frameshift deletion | – |
| ccRCC5 | 1 | c.223_225delCAT/+ | VHLp.I75del/+ | In frame deletion | – |
| ccRCC10 | 3 | c.491 A>T | p.Q164L | Missense substitution | COSM30288 |
In four of the seven tested ccRCC primary cell cultures, mutations in the DNA exons coding for pVHL were detected. Three had a heterozygote mutation status (/+), one sample (ccRCC10) had a homozygote mutation leading to missense substitution. Two of these mutations have been reported before in the COSMIC database (COSMIC-ID)