The major goal of this research project is to identify and characterize genes involved in the pathogenesis of human kidney cancer. Our major accomplishments this year are: 1. We have identified the gene responsible for the Birt-Hogg-Dube' syndrome (BHD). BHD is an inherited disorder that predisposes to benign tumors of the skin, carcinomas of the kidney, cysts of the lung, and pneumothorax. The significance of the identification of the BHD gene is that diagnosis of the condition will be improved by the availability of a DNA test. Germline mutations in the BHD gene may be responsible for some cases of inherited renal carcinoma. The second accomplishment is the development of a mouse model for von Hippel-Lindau disease.This mouse model was developed using the technique of conditional inactivation of the VHL gene. Affected mice developed multiple angiomas of the liver, impaired spermatogenesis, and widespread new blood vessel formation. The availability of this new mouse model provides an opportunity to evaluate novel therapies for von Hippel-Lindau disease. We are negotiating with DeCode Genetics, Rejkjavik, Iceland about working together to identify gene(s) responsible for common, sporadic renal carcinoma.
| Okimoto, Kazuo; Sakurai, Junko; Kobayashi, Toshiyuki et al. (2004) A germ-line insertion in the Birt-Hogg-Dube (BHD) gene gives rise to the Nihon rat model of inherited renal cancer. Proc Natl Acad Sci U S A 101:2023-7 |
| Schmidt, Laura S; Nickerson, Michael L; Angeloni, Debora et al. (2004) Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met proto-oncogene. J Urol 172:1256-61 |
| Linehan, W Marston; Vasselli, James; Srinivasan, Ramaprasad et al. (2004) Genetic basis of cancer of the kidney: disease-specific approaches to therapy. Clin Cancer Res 10:6282S-9S |
| Linehan, W Marston; Zbar, Berton (2004) Focus on kidney cancer. Cancer Cell 6:223-8 |
| Maranchie, Jodi K; Afonso, Anoushka; Albert, Paul S et al. (2004) Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location. Hum Mutat 23:40-6 |
| Toro, Jorge R; Glenn, Gladys; Hou, Lifang et al. (2003) Facial papules, spontaneous pneumothorax, and renal tumors. J Am Acad Dermatol 48:111-4 |
| Choyke, Peter L; Glenn, Gladys M; Walther, McClellan M et al. (2003) Hereditary renal cancers. Radiology 226:33-46 |
| Lingaas, Frode; Comstock, Kenine E; Kirkness, Ewen F et al. (2003) A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog. Hum Mol Genet 12:3043-53 |
| Linehan, W Marston; Walther, McClellan M; Zbar, Berton (2003) The genetic basis of cancer of the kidney. J Urol 170:2163-72 |
| Zbar, Berton; Klausner, Richard; Linehan, W Marston (2003) Studying cancer families to identify kidney cancer genes. Annu Rev Med 54:217-33 |
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