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National Cancer Institute U.S. National Institutes of Health www.cancer.gov
About DCEG

Jorge R. Toro, M.D.

Investigator

Location: Executive Plaza South, Room 7012
Phone: 301-496-4375
Fax: 301-402-4489
E-mail: torojo@exchange.nih.gov

 Jorge R. Toro, M.D.

Biography

Dr. Toro received an M.D. with honors from the State University of New York School of Medicine at Buffalo, and completed his internship in internal medicine at Stanford University. He trained in Dermatology at University of California San Francisco and Southern Illinois University School of Medicine. Dr. Toro joined the Dermatology Branch of NCI during the third year of his residency, and became a Tenure track investigator in the Genetic Epidemiology Branch in 2001. His research focuses on the role of genetic basis of genodermatoses with an increased risk of internal neoplasia and skin cancer.

Research Interests

Genodermatosis Studies

General Goals: We are focusing on the clinical, epidemiologic, genetic, and laboratory investigations of individuals affected with genodermatosis and skin cancer to elucidate the mechanisms that contribute to benign and malignant diseases. We recruit and examine individuals and collect samples obtained from affected individuals and their relatives for cytogenetic, haplotype, sequencing and other molecular methods. The genomic localization of single and complex gene traits that predispose to genodermatosis and skin cancer is determined using various analytic and statistical genetic methods.

Genodermatosis To describe and characterize new inherited skin disorders associated with internal neoplasia. To use skin diseases as markers to map and identify novel cancer associated susceptibility genes.

Cutaneous Lymphomas To understand the biology and pathogenesis of primary cutaneous lymphomas by defining and characterizing new clinicopathological entities based on clinical, microscopic, immunophenotypic and molecular methods. We have been interested in unique types of T-cell lymphomas such as cutaneous gamma delta T-cell lymphoma.

Hermansky-Pudlak syndrome (HPS) To characterize disorders of pigment dilution and to identify new HPS genes that will allow us to understand the vesicular trafficking of melanosome, platelets and lysosomes.

Keywords

  • Skin cancer, cutaneous lymphoma, Birt-Hogg-Dube, hereditary leiomyomatosis and renal cancer (HLRCC), albinism, LOH, DNA repair, family studies

Selected Publications

  • Ng D, Toure O, Wei MH, Arthur DC, Abbasi F, Fontaine L, Marti GE, Fraumeni JF Jr, Goldin LR, Caporaso N, Toro JR. Identification of a novel chromosome region, 13q21.33-q22.2, for susceptibility genes in familial chronic lymphocytic leukemia. Blood 2007;109:916-925.
  • Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, Wei MH, Schmidt LS, Davis L, Zbar B, Choyke P, Steinberg SM, Nguyen DM, Linehan WM. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. Am J Respir Crit Care Med 2007;175:1044-1053.
  • Pithukpakorn M, Wei MH, Toure O, Steinbach PJ, Glenn GM, Zbar B, Linehan WM, Toro JR. Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet 2006;43:755-762.
  • Wei MH, Toure O, Glenn GM, Pithukpakorn M, Neckers L, Stolle C, Choyke P, Grubb R, Middleton L, Turner ML, Walther MM, Merino MJ, Zbar B, Linehan WM, Toro JR. Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet 2006;43:18-27.
  • Isaacs JS, Jung YJ, Mole DR, Lee S, Torres-Cabala C, Chung YL, Merino M, Trepel J, Zbar B, Toro J, Ratcliffe PJ, Linehan WM, Neckers L. HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. Cancer Cell 2005;2:143-153.
  • Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J, Morrison P, Maher ER, Walther MM, Zbar B, Linehan WM. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé Syndrome. Am J Hum Genet 2005;76:1023-1033.
  • Toro JR, Liewehr D, Pabby N, Sorbara L, Raffeld M, Steinberg SM, Jaffe ES. Gamma-delta T-cell phenotype is associated with significantly decreased survival in cutaneous T-cell lymphoma. Blood 2003;101:3407-3412.
  • 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. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet 2003;73:95-106.
  • Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, Duray P, Merino M, Choyke P, Pavlovich CP, Sharma N, Walther M, Munroe D, Hill R, Maher E, Greenberg C, Lerman MI, Linehan WM, Zbar B, Schmidt LS. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé Syndrome. Cancer Cell 2002;2:157-164.
  • Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet 2001;28:376-380.