Article
Somatic point mutation of the wild-type allele detected in tumors of patients with VHL germline deletion.
Oncogene - 14 Feb 2002
Vortmeyer Alexander O, Huang Steve C, Pack Svetlana D, Koch Christian A, Lubensky Irina A, Oldfield Edward H, Zhuang Zhengping
Abstract excerpt
The majority of patients with Von Hippel-Lindau (VHL) disease are affected by a VHL germline mutation involving one copy of the VHL gene. Loss of heterozygosity of the second VHL allele can be consistently demonstrated in tumor tissue from these patients, suggesting that allelic deletion is a very early or even initiating event for tumorigenesis. Approximately 20% of VHL disease patients, however, exhibit...
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