… to cause VHL disease or kidney cancer?” So, the first answer to that is that we know that in
VHL-associated cancers such as kidney cancers, VHL is lost, but many other mutations had to …

… We evaluate the role of the VHL mutation p.P81S in relation to vHL and RCC development,
and … genetic analysis of the proband’s tumor, assessed the phenotypes of all other p.P81S …

… VHL is reported to be altered in 70–90% of sporadic ccRCCs [6], [7]. Loss of VHL function in
… -L1) expression has been reported in several human cancers including RCC [11]. We have …

… is known to be closely related with mutation of the Von Hippel-Lindau gene (VHL). ccRCC
represents 75 % of all RCC cases and is also the most aggressive form of this cancer type [4]. …

… We recently analyzed the greatest tumor diameter and VHL genotype in a prospective study
… of vHL disease. We found that only patients with missense VHL gene mutations developed …

… , we analyzed the mutations of VHL, PTEN, and BAP1 in 24 renal tumor specimens. The
VHL gene was sequenced, and we aimed to report the somatic mutations we found. Although …

… role of VHL gene mutations leading to the development of VHL disease and erythrocytosis,
and to … a case of a patient with VHL disease due to a de novo mutation, to illustrate the role of …

… gene, termed VHL. Studies with a patient-… VHL-null renal cancer cell line revealed that
VHL functions as a suppressor of renal cancer growth as cells re-constituted with wild-type VHL …

… VHL inactivation alone is not sufficient for the development of ccRCC. However, the fact that
VHL … As descriptions of tumor suppressor genes other than VHL are beyond the scope of this …

… to mutations of the VHL tumor suppressor gene. Patients harboring the R167Q mutation
of the VHL gene … We asked whether the R167Q mutation with critical aspects of pseudo-hypoxia …