PMID: 7977367
Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and variants in all cell lines. All mutations cluster to the 3’ end of the VHL gene open reading frame, implicating this region as important for the tumor-suppressor function of the VHL protein. RT-PCR analysis in RCC cell lines found a p.R82C (c.244C>T) mutation, stated in the paper as c.457C>T due to an older transcript. It was seen in cell line ACHN. Any family information or other manifestations apart from RCC were unclear.