Genomes and Genes
Laura S Schmidt
Affiliation: National Cancer Institute
- 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...
- Birt-Hogg-Dubé syndrome, a genodermatosis that increases risk for renal carcinomaLaura S Schmidt
Basic Research Program, SAIC Frederick, Inc, Laboratory of Immunobiology, National Cancer Institute Frederick, Frederick, MD 21702, USA
Curr Mol Med 4:877-85. 2004....
- Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met proto-oncogeneLaura S Schmidt
Basic Research Program, SAIC Frederick, Inc, Frederick, Maryland, USA
J Urol 172:1256-61. 2004..In the current study we evaluated the clinical phenotype and germline MET mutation of 3 new HPRC families. We describe the early onset clinical features of HPRC...
- Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneysMasaya Baba
Urologic Oncology Branch, National Cancer Institute Frederick, Frederick, MD 21702, USA
J Natl Cancer Inst 100:140-54. 2008..BHD encodes folliculin, a protein that may interact with the energy- and nutrient-sensing 5'-AMP-activated protein kinase-mammalian target of rapamycin (AMPK-mTOR) signaling pathways...
- 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....
- Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signalingMasaya Baba
Laboratories of Immunobiology, Center for Cancer Research, National Cancer Institute Frederick, Frederick, MD 21702, USA
Proc Natl Acad Sci U S A 103:15552-7. 2006..Our data suggest that FLCN, mutated in Birt-Hogg-Dubé syndrome, and its interacting partner FNIP1 may be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways...
- Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissuesMichelle B Warren
Laboratory of Immunobiology, Center for Cancer Research, NCI Frederick, Frederick, MD, USA
Mod Pathol 17:998-1011. 2004..These results indicate a wide expression pattern for BHD mRNA in many tissues, including skin, lung and kidney, which are involved in the BHD phenotype, and support a tumor suppressor role for BHD in renal cancer...
- Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndromeChristian P Pavlovich
Urologic Oncology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute and Basic Research Program, SAIC Frederick, Inc, Frederick, Maryland, USA
J Urol 173:1482-6. 2005..Herein we describe the evaluation and management of renal tumors in Birt-Hogg-Dubé (BHD), an autosomal dominant disorder predisposing to cutaneous fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax and renal tumors...
- Familial renal carcinoma: clinical evaluation, clinical subtypes and risk of renal carcinoma developmentBerton Zbar
Urologic Oncology Branch, National Cancer Institute, Bethesda, Maryland 20892 1107, USA
J Urol 177:461-5; discussion 465. 2007..We also determined the risk of renal carcinoma in first-degree relatives of affected family members...
- H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferationHisashi Hasumi
Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
Hum Mol Genet . 2016..These findings may provide mechanistic insight into the role of FLCN in regulating kidney cell proliferation and facilitate the development of novel therapeutics for FLCN-deficient kidney cancer...
- Mitochondrial DNA mutations distinguish bilateral multifocal renal oncocytomas from familial Birt-Hogg-Dubé tumorsMartin Lang
Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA
Mod Pathol 28:1458-69. 2015..This work supports a role for mtDNA mutations in respiratory chain complexes as diagnostic markers for renal oncocytomas. ..
- Deciphering von Hippel-Lindau (VHL/Vhl)-associated pancreatic manifestations by inactivating Vhl in specific pancreatic cell populationsH C Jennifer Shen
Tumor Angiogenesis Section, Surgery Branch, National Cancer Institute, NIH, Bethesda, MD, USA
PLoS ONE 4:e4897. 2009..The novel model systems reported here will provide the basis for further functional and genetic studies to define molecular mechanisms involved in VHL-associated pancreatic diseases...
- Genetic predisposition to kidney cancerLaura S Schmidt
Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD Basic Science Program, Leidos Biomedical Research, Inc, Frederick National Laboratory for Cancer Research, Frederick, MD
Semin Oncol 43:566-574. 2016....
- Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé SyndromeLaura S Schmidt
Basic Science Program, Leidos Biomedical Research, Inc, Frederick National Laboratory for Cancer Research, Frederick, MD 21702 Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892
Expert Opin Orphan Drugs 3:15-29. 2015..Emerging evidence suggests that FLCN may interact in a number of pathways/processes. Identification of FLCN's major functional roles will provide the basis for developing targeted therapies for BHD patients...
- Birt-Hogg-Dubé syndrome: from gene discovery to molecularly targeted therapiesLaura S Schmidt
Basic Science Program, SAIC Frederick, Inc, Frederick National Laboratory for Cancer Research, Frederick, MD, USA
Fam Cancer 12:357-64. 2013....
- Vascular defects and liver damage by the acute inactivation of the VHL gene during mouse embryogenesisSeung Beom Hong
Laboratory of Immunobiology, Center for Cancer Research, NCI Frederick, Frederick, MD 21702, USA
Lab Invest 86:664-75. 2006..This mouse model will be useful for the screening of anti-HIF or anti-VEGF drugs in vivo. Additionally, this acute VHL inactivation system may provide a useful tool for the in vivo study of genes that cause early embryonic lethality...
- A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dogFrode Lingaas
Norwegian School of Veterinary Science, Oslo
Hum Mol Genet 12:3043-53. 2003..Strong evidence is provided that the RCND mutation may have a homozygous lethal effect (P<0.01)...
- Identification and characterization of a novel folliculin-interacting protein FNIP2Hisashi Hasumi
Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20894, United States
Gene 415:60-7. 2008....
- 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...
- A germ-line insertion in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancerKazuo Okimoto
Department of Experimental Pathology, Cancer Institute, Japanese Foundation for Cancer Research, 1 37 1 Kami Ikebukuro, Toshima ku, Tokyo 170 8455, Japan
Proc Natl Acad Sci U S A 101:2023-7. 2004..The Nihon rat may therefore provide insights into a tumor-suppressor gene that is related to renal carcinogenesis and an animal model of human BHD syndrome...
- High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumorsCathy D Vocke
Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA
J Natl Cancer Inst 97:931-5. 2005..These results support a role for BHD as a tumor suppressor gene that predisposes to the development of renal tumors when both copies are inactivated...
- 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...
- 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...
- Searching for the hereditary causes of renal-cell carcinomaChristian P Pavlovich
Johns Hopkins Bayview Medical Center, Brady Urological Institute, A 345, 4940 Eastern Ave, Baltimore, Maryland 21224, USA
Nat Rev Cancer 4:381-93. 2004
- Identification of the genes for kidney cancer: opportunity for disease-specific targeted therapeuticsW Marston Linehan
Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA
Clin Cancer Res 13:671s-679s. 2007..These Mendelian single-gene syndromes provide a unique opportunity to evaluate the effectiveness of agents that target the VHL, c-Met, BHD, and fumarate hydratase pathways...
- The genetic basis of renal cell carcinomaChristian P Pavlovich
James Buchanan Brady Urological Institute, A 345 Johns Hopkins Bayview Medical Center, 4940 Eastern Avenue, Baltimore, MD 21224, USA
Urol Clin North Am 30:437-54, vii. 2003..Consideration of these syndromes is important for proper treatment when one encounters patients with multiple renal tumors, tumors at an early age of onset, or patients with a positive family history of renal cell carcinoma...