Lifting the lid on kidney cancer: Exposing the underlying genetics
1995
Challenge
In the early 1980s, little was known about the genetic basis of kidney cancer, and patients continued to succumb to the disease despite chemotherapy treatment. Today, more than 13,000 renal carcinoma patients in the U.S. still die every year Kidney Cancer, demonstrating a continuing need for better approaches to battling this disease.
Advance
During the past two decades, IRP researcher W. Marston Linehan, M.D., and colleagues made seminal discoveries about the genetic basis of kidney cancer, including identification of the von Hippel-Lindau (VHL) gene (the 6th human cancer gene identified) and the hereditary papillary renal cell carcinoma (HPRC), hereditary leiomyomatosis, and renal cell cancer (HLRCC) genes: c-Met, BHD, and fumarate hydratase.
Impact
These discoveries have led to new approaches for molecular-based therapies against renal carcinoma, and clinical trials are now ongoing with a number of promising treatments.
Publications
Linehan WM, Lerman MI, Zbar B. (1995). Identification of the von Hippel-Lindau (VHL) gene. Its role in renal cancer. JAMA. 273(7), 564-70.
Schmidt L, Duh FM, Chen F, Kishida T, Glenn G, Choyke P, Scherer SW, Zhuang Z, Lubensky I, Dean M, Allikmets R, Chidambaram A, Bergerheim UR, Feltis JT, Casadevall C, Zamarron A, Bernues M, Richard S, Lips CJ, Walther MM, Tsui LC, Geil L, Orcutt ML, Stackhouse T, Lipan J, Slife L, Brauch H, Decker J, Niehans G, Hughson MD, Moch H, Storkel S, Lerman MI, Linehan WM, Zbar B. (1997). Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. Nat Genet. 16(1), 68-73.
Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, Stewart L, Duray P, Tourre O, Sharma N, Choyke P, Stratton P, Merino M, Walther MM, Linehan WM, Schmidt LS, Zbar B. (2003). Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet. 73(1), 95-106.
This page was last updated on Friday, August 11, 2023