Abstract

In the United States there are approximately 30,000 new cases of kidney cancer each year, and 12,000 individuals die from the disease. Kidney cancer is made up of a number of different types of cancers that occur in the kidney. Each type of kidney cancer is characterized by a specific morphology,is caused by a different gene, and has a different clinical course. New syndromes are being recognized and characterization of the associated symptoms as well as identification of the genes involved in the disease are important to develop appropriate therapiesSpecific aimsof our study are:1- To define the types and morphological characteristics of renal cancer associated with HLRCC2) To determine if other genes are responsible for HLRCC3) Identify genotype/ phenotype correlation's4) To study the associated lesions such as uterine and other smooth muscle tumors and investigate if they share similar genetic changes.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Division of Basic Sciences - NCI (NCI)
Type
Intramural Research (Z01)
Project #
1Z01BC010696-01
Application #
7291931
Study Section
(LP)
Project Start
Project End
Budget Start
Budget End
Support Year
1
Fiscal Year
2005
Total Cost
Indirect Cost

  Institution

Name
Basic Sciences
Department
Type
DUNS #
City
State
Country
United States
Zip Code

  Publications

Yang, Youfeng; Padilla-Nash, Hesed M; Vira, Manish A et al. (2008) The UOK 257 cell line: a novel model for studies of the human Birt-Hogg-Dube gene pathway. Cancer Genet Cytogenet 180:100-9
Grubb 3rd, Robert L; Franks, Michael E; Toro, Jorge et al. (2007) Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. J Urol 177:2074-9;discussion 2079-80
Wei, M-H; Toure, O; Glenn, G M et al. (2006) Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet 43:18-27
Schmidt, Laura S; Nickerson, Michael L; Warren, Michelle B et al. (2005) Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. Am J Hum Genet 76:1023-33
Vocke, Cathy D; Yang, Youfeng; Pavlovich, Christian P et al. (2005) High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube-associated renal tumors. J Natl Cancer Inst 97:931-5
Isaacs, Jennifer S; Jung, Yun Jin; Mole, David R et al. (2005) HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. Cancer Cell 8:143-53