The other critical step in tumor initiation and progression, beside the activation of oncogenes, is the inactivation of tumor suppressor genes. Under normal function, a tumor suppressor gene (TSG) acts as a negative regulator for cell growth control by limiting cell proliferation and tumor development. For tumors to develop, it was found that both copies of the TSG must be lost either through mutation or deletion of the gene (1). It is not the TSGs themselves that limit cell growth, but it is the regulator proteins that they produce. The regulator proteins produced are involved in inhibiting cell production and survival. With the loss of TSGs and lack of regulatory proteins, the tumor progression can eventually lead to many types of cancer.
Overview of VHL Disease
The von Hippel-Lindau disease is an autosomal dominant inheritance disorder that is associated with the loss and mutation of VHL tumor suppressor gene (2). VHL disease is a hereditary cancer that appears in 1 in 36,000 live births. Germline VHL gene mutations of this rare disorder are a predisposition to many cancers that can produce benign or malignant tumors due to a loss of the wild-type VHL allele given by the unaffected parents (3). Such tumors can be renal cysts and renal carcinoma, central nervous system hemangioblastoma, and phaeochromocytoma. Pancreatic islet cell tumors, gonadal tumors, endolymphatic sac tumors, broad-ligament cystadenomas have also been mentioned in relation to VHL disease (4). These tumors are found in a vast number of organs including the kidney, retina, CNS, pancreas, and adrenal gland. However, the majority of the cases for VHL disease involve renal cell carcinoma (3)....
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...el-Lindau Disease." Journal of Clinical Neuroscience 20.6 (2013): 842-47. Print.
8. Wang, Wen-Chung, Hui-Ju Chen, Wei-Pang Shu, Yi-Chang Tsai, and Yen-Chein Lai. "The Allele Frequency of Two Single Nucleotide Polymorphisms in the Von Hippel-Lindau (VHL) Tumor Suppressor Gene in the Taiwanese Population." Journal of the Formosan Medical Association 110.10 (2011): 646-51. ScienceDirect. Elsevier, 5 Aug. 2010. Web. 31 Mar. 2014.
9. Kondo, K. "The Von Hippel–Lindau Tumor Suppressor Gene." Experimental Cell Research 264.1 (2001): 117-25. Print.
10. Duchi, S., L. Fagnocchi, V. Cavaliere, A. Hsouna, G. Gargiulo, and T. Hsu. "Drosophila VHL Tumor-suppressor Gene Regulates Epithelial Morphogenesis by Promoting Microtubule and APKC Stability." Development 137.9 (2010): 1493-503. Print.
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