Research Topics
Species | Jorge R ToroSummaryAffiliation: National Institutes of Health Country: USA Publications
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Detail Information
Publications
Prior history of non-melanoma skin cancer is associated with increased mortality in patients with chronic lymphocytic leukemiaJorge R Toro
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, Bldg EPS Room 7012, Bethesda, 20892 7236, USA
Haematologica 94:1460-4. 2009..0001; log-rank test). Non-melanoma skin cancer may be a novel clinical predictor of worse chronic lymphocytic leukemia outcome...
Incidence patterns of soft tissue sarcomas, regardless of primary site, in the surveillance, epidemiology and end results program, 1978-2001: An analysis of 26,758 casesJorge R Toro
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892 7231, USA
Int J Cancer 119:2922-30. 2006..Incidence patterns of STS varied markedly by histologic type, supporting the notion that these tumors may be etiologically distinct...- The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinomaSummer S Han
Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 7231, USA
Hum Mol Genet 21:1190-200. 2012..72 × 10(-9), per-allele OR = 1.28, 95% CI: 1.18-1.39) In conclusion, we report that chromosome 2p21 harbors a complex genetic architecture for common RCC risk variants... 
Cutaneous appendageal carcinoma incidence and survival patterns in the United States: a population-based studyPatrick W Blake
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892 7231, USA
Arch Dermatol 146:625-32. 2010..To examine incidence patterns of patients diagnosed as having cutaneous appendageal carcinoma (CAC)...- Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancerLaveta Stewart
Division of Cancer Epidemiology and Genetics, Genetic Epidemiology Branch, National Cancer Institute, National Institutes of Health, Rockville, MD 20892 7231, USA
Arch Dermatol 144:1584-92. 2008..To investigate the risk of uterine fibroids and other reproductive risk factors in women with hereditary leiomyomatosis and renal cell cancer (HLRCC)... - The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndromeMing Hui Wei
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD 20892 4562, USA
Hum Mutat 30:E880-90. 2009..The database strives to systematically unify current knowledge of FLCN variants and will be useful to geneticists and genetic counselors while also providing a rapid and systematic resource for investigators... - Cutaneous lymphoma incidence patterns in the United States: a population-based study of 3884 casesPorcia T Bradford
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
Blood 113:5064-73. 2009..7. This recent apparent change could be incomplete case ascertainment or potential leveling off of IRs. CLs rates vary markedly by race and sex, supporting the notion that they represent distinct disease entities... - Cutaneous soft tissue sarcoma incidence patterns in the U.S. : an analysis of 12,114 casesPanta Rouhani
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892 7231, USA
Cancer 113:616-27. 2008..Cutaneous soft tissue sarcomas (CSTS) are a heterogeneous group of mesenchymal neoplasms. To the authors' knowledge, no prior large, population-based study has focused on CSTS... - Hereditary kidney cancer: unique opportunity for disease-based therapyW Marston Linehan
Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Building 10 CRC, Room 1 5940, Bethesda, MD 20892 1107, USA
Cancer 115:2252-61. 2009..Studies of the tricarboxylic acid cycle and the VHL-HIF pathways have provided the foundation for therapeutic approaches in patients with HLRCC-associated kidney cancer as well as other hereditary and sporadic forms of RCC... - Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North AmericaJorge R Toro
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, Executive Plaza South, Rockville, MD 20892, USA
Am J Hum Genet 73:95-106. 2003..HLRCC is associated with clinically significant uterine fibroids and aggressive renal tumors. The present study also expands the histologic spectrum of renal tumors and FH mutations associated with HLRCC... - Topical cidofovir for the treatment of dermatologic conditions: verruca, condyloma, intraepithelial neoplasia, herpes simplex and its potential use in smallpoxJorge R Toro
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, Executive Plaza South, Room 7012, Rockville, MD 20892 7231, USA
Dermatol Clin 21:301-9. 2003..It is also hoped that the cost to formulate and use cidofovir topically will eventually decrease to a level that will allow more widespread use of this drug... - Incidence of cutaneous sebaceous carcinoma and risk of associated neoplasms: insight into Muir-Torre syndromeGraca M Dores
Medical Service, Department of Veterans Affairs Medical Center, Oklahoma City, OK 73104, USA
Cancer 113:3372-81. 2008..To the authors' knowledge, only limited information exists regarding incidence patterns of sebaceous carcinoma (SC), and no prior study has quantified risks of associated cancers... - Facial papules, spontaneous pneumothorax, and renal tumorsJorge R Toro
Genetic Epidemiology Branch, National Cancer Institute, Bethesda, Maryland 20892-7231, USA
J Am Acad Dermatol 48:111-4. 2003 - High-density mapping and follow-up studies on chromosomal regions 1, 3, 6, 12, 13 and 17 in 28 families with chronic lymphocytic leukaemiaDavid Ng
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, DHHS, Bethesda, MD 20892 7236, USA
Br J Haematol 133:59-61. 2006..2, 3q22.1, 3q26.2, 6q22.31-q23.2, 12q24.23, 14q32.13, 17p13.3. Chromosome 13q21.33 remains a region of interest with a P-value of 0.013 (marker D13S1291) and warrants additional molecular investigation as a susceptibility region for CLL... - Gamma-delta T-cell phenotype is associated with significantly decreased survival in cutaneous T-cell lymphomaJorge R Toro
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 7231, USA
Blood 101:3407-12. 2003..067). No other prognostic factors were identified as having a notable association with outcome in this subgroup. TCR delta 1 expression in primary cutaneous lymphomas is an independent prognostic factor associated with decreased survival... - Identification of a novel chromosome region, 13q21.33-q22.2, for susceptibility genes in familial chronic lymphocytic leukemiaDavid Ng
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD 20892 7231, USA
Blood 109:916-25. 2007..In conclusion, we identified a novel candidate region that may predispose to familial CLL... - Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signalingPatrick W Blake
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health NIH, Rockville, Maryland 20892 4562, USA
Hum Mutat 30:1025-36. 2009..Recent work using animal models revealed new roles for CYLD in immunity, lipid metabolism, spermatogenesis, osteoclastogenesis, antimicrobial defense, and inflammation... - Von Hippel-Lindau (VHL) inactivation in sporadic clear cell renal cancer: associations with germline VHL polymorphisms and etiologic risk factorsLee E Moore
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America
PLoS Genet 7:e1002312. 2011..A proportion of tumors from current smokers lacked VHL alterations and may represent a biologically distinct clinical entity from inactivated cases... - Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3Mark P Purdue
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department Health and Human Services, Bethesda, Maryland, USA
Nat Genet 43:60-5. 2011..31 for rs4765623, which maps to SCARB1, the scavenger receptor class B, member 1 gene (P = 2.6 × 10⁻⁸). Our study reports previously unidentified genomic regions associated with RCC risk that may lead to new etiological insights... - Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndromeJorge R Toro
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20892 7231, USA
Am J Respir Crit Care Med 175:1044-53. 2007..Birt-Hogg-Dubé syndrome (BHDS) is an autosomal, dominantly inherited genodermatosis that predisposes to fibrofolliculomas, kidney neoplasms, lung cysts, and spontaneous pneumothorax... - Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1Matthew L Herman
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, Maryland 20892 4562, USA
Hum Mutat 30:537-47. 2009..In conclusion, this study expands the TGM1 mutation spectrum and summarizes the current knowledge of TGM1 mutations. The high frequency of mutated arginine codons in TGM1 may be due to the deamination of 5' methylated CpG dinucleotides... - Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancerLaveta Stewart
Genetic Epidemiology Branch, National Cancer Institute, National Institutes of Health, Rockville, MD, USA
Dermatol Nurs 18:335-41; quiz 342. 2006 - Epidemiology of nonkeratinocytic skin cancers among persons with AIDS in the United StatesEmilie Lanoy
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland 20892, USA
AIDS 23:385-93. 2009..Immunosuppression may increase risk for some skin cancers. We evaluated skin cancer epidemiology among persons with AIDS... - Autoinflammatory diseases: clinical and dermatologic features, genetics, pathogenesis and therapyManop Pithukpakorn
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA
Adv Dermatol 22:67-90. 2006 - Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndromeLaura S Schmidt
Basic Research Program, Science Applications International Corporation Frederick Inc, Frederick, MD, USA
Am J Hum Genet 76:1023-33. 2005..This study expands the BHD-mutation spectrum and evaluates genotype-phenotype correlations among families with BHD... - Family history and the risk of kidney cancer: a multicenter case-control study in Central EuropeRayjean J Hung
IARC, 150 cours Albert Thomas, F 69372 Lyon Cedex 08, France
Cancer Epidemiol Biomarkers Prev 16:1287-90. 2007.... - 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 syndromeMichael L Nickerson
Laboratory of Immunobiology, Center for Cancer Research, SAIC Frederick, Inc, National Center for Cancer Research, Frederick, MD 21702, USA
Cancer Cell 2:157-64. 2002.... - Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumorsMichael L Nickerson
Transgenomic, Gaithersburg, Maryland, USA
Clin Cancer Res 14:4726-34. 2008..Identify relationships between the prevalence of VHL gene alterations and alteration subtypes with patient and tumor characteristics... - No association of ARLTS1 polymorphisms and risk for familial chronic lymphocytic leukaemiaDavid Ng
Br J Haematol 137:173-5. 2007