W. Marston Linehan

Comparison of Snap Freezing versus Ethanol Fixation for Gene Expression Profiling of Tissue Specimens (2008)

Mark A. Perlmutter, John W. Gillespie, Yvonne Gathright, Sergio González, Alfredo Velasco, ...

Frozen tissue specimens are the gold standard for molecular analysis. However, snap freezing presents several challenges regarding collection and storage of tissue, and preservation of histological...

BRIEF COMMUNICATIONS Serum Proteomic Patterns for Detection of Prostate Cancer (2008)

David K, Cloud P. Paweletz, Paul S. Hackett, Ben A, Alfredo Velassco, ...

Pathologic states within the prostate may be reflected by changes in serum proteomic patterns. To test this hypothesis, we analyzed serum proteomic mass spectra with a bioinformatics tool to reveal...

Kidney-Targeted Birt-Hogg-Dube Gene Inactivation in a Mouse Model: Erk1/2 and Akt-mTOR Activation, Cell Hyperproliferation, and Polycystic Kidneys (2008)

Baba, Masaya, Furihata, Mutsuo, Hong, Seung-Beom, Tessarollo, Lino, Haines, Diana C., Southon, Eileen, ...

Background Patients with Birt-Hogg-Dubé (BHD) syndrome harbor germline mutations in the BHD tumor suppressor gene that are associated with an increased risk for kidney cancer. BHD encodes...

A possible new syndrome with growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma in association with familial testicular germ cell malignancy: A case report (2007)

Mai, Phuong L, Korde, Larissa, Kramer, Joan, Peters, June, Mueller, Christine M, Pfeiffer, Susan, ...

Abstract Background Germ-cell testicular cancer has not been definitively linked to any known hereditary cancer susceptibility disorder. Familial testicular cancer in the presence of other findings...

A possible new syndrome with growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma in association with familial testicular germ cell malignancy: A case report (2007)

Mai, Phuong L, Korde, Larissa, Kramer, Joan, Peters, June, Mueller, Christine M, Pfeiffer, Susan, ...

Abstract Background Germ-cell testicular cancer has not been definitively linked to any known hereditary cancer susceptibility disorder. Familial testicular cancer in the presence of other findings...

Gene Promoter Methylation in Prostate Tumor–Associated Stromal Cells (2006)

Hanson, Jeffrey A., Gillespie, John W., Grover, Amelia, Tangrea, Michael A., Chuaqui, Rodrigo F., Emmert-Buck, Michael R., ...

Background: Gene expression can be silenced through the methylation of specific sites in the promoter region. This mechanism of gene silencing has an important role in the carcinogenesis of prostate...

High Frequency of Somatic Frameshift BHD Gene Mutations in Birt-Hogg-Dubé–Associated Renal Tumors (2005)

Vocke, Cathy D., Yang, Youfeng, Pavlovich, Christian P., Schmidt, Laura S., Nickerson, Michael L., Torres-Cabala, Carlos A., ...

The Birt-Hogg-Dubé (BHD) syndrome is an inherited genodermatosis characterized by a predisposition to hamartomatous skin lesions, pulmonary cysts, and renal carcinoma. Seventy-seven renal tumors...

Mistaken Identifiers: Gene name errors can be introduced inadvertently when using Excel in bioinformatics (2004)

Zeeberg, Barry R, Riss, Joseph, Kane, David W, Bussey, Kimberly J, Uchio, Edward, Linehan, W Marston, ...

Abstract Background When processing microarray data sets, we recently noticed that some gene names were being changed inadvertently to non-gene names. Results A little detective work traced the...

Serum Proteomic Patterns for Detection of Prostate Cancer (2002)

Petricoin, Emanuel F., Ornstein, David K., Paweletz, Cloud P., Ardekani, Ali, Hackett, Paul S., Hitt, Ben A., ...

Pathologic states within the prostate may be reflected by changes in serum proteomic patterns. To test this hypothesis, we analyzed serum proteomic mass spectra with a bioinformatics tool to reveal...

Surprising Activity of Flutamide Withdrawal, When Combined With Aminoglutethimide, in Treatment of "Hormone-Refractory" Prostate Cancer (1994)

Sartor, Oliver, Cooper, Michael, Weinberger, Maribeth, Headlee, Donna, Thibault, Alain, Tompkins, Anne, ...

Backgroound The best treatment for patients with “hormone-refractory” metastatic prostate cancer is unclear, particularly in patients for whom suramin and hydrocortisone have failed. Purpose We...

Prospective Randomized Trial of High-Dose Interleukin-2 Alone or in Conjunction With Lymphokine-Activated Killer Cells for the Treatment of Patients With Advanced Cancer (1993)

Rosenberg, Steven A., Lotze, Michael T., Yang, James C., Topalian, Suzanne L., Chang, Alfred E., Schwartzentruber, Douglas J., ...

Background: Treatment using interleukin-2 (IL-2) alone or in conjunction with lymphokine-activated killer (LAK) cells has been shown to mediate disease regression in selected patients with advanced...

Unexplained Excess Risk of Bladder Cancer in Men (1990)

Hartge, Patricia, Harvey, Elizabeth B., Linehan, W. Marston, Silverman, Debra T., Sullivan, Jerry W., Hoover, Robert N., ...

In nearly all populations studied, the risk of bladder cancer is two to four times as great in men as in Women.We estimated what the gender-specific incidence rates would be in the absence of...

The von Hippel-Lindau tumor-suppressor gene product forms a stable complex with human CUL-2, a member of the Cdc53 family of proteins

Pause, Arnim, Lee, Stephen, Worrell, Robert A., Chen, David Y. T., Burgess, Wilson H., Linehan, W. Marston, ...

The inactivation of the von Hippel-Lindau (VHL) gene predisposes affected individuals to VHL syndrome and is an early genetic event associated with sporadic renal cell carcinoma and CNS...

Defective placental vasculogenesis causes embryonic lethality in VHL-deficient mice

Gnarra, James R., Ward, Jerrold M., Porter, Forbes D., Wagner, Joseph R., Devor, Deborah E., Grinberg, Alex, ...

Inheritance of an inactivated form of the VHL tumor suppressor gene predisposes patients to develop von Hippel–Lindau disease, and somatic VHL inactivation is an early genetic event leading to the...

The von Hippel-Lindau Tumor Suppressor Gene Inhibits Hepatocyte Growth Factor/Scatter Factor-Induced Invasion and Branching Morphogenesis in Renal Carcinoma Cells

Koochekpour, Shahriar, Jeffers, Michael, Wang, Paul H., Gong, Changning, Taylor, Gregory A., Roessler, Lisa M., ...

Loss of function in the von Hippel-Lindau (VHL) tumor suppressor gene occurs in familial and most sporadic renal cell carcinomas (RCCs). VHL has been linked to the regulation of cell cycle cessation...

Predicting survival in patients with metastatic kidney cancer by gene-expression profiling in the primary tumor

Vasselli, James R., Shih, Joanna H., Iyengar, Shuba R., Maranchie, Jodi, Riss, Joseph, Worrell, Robert, ...

To identify potential molecular determinants of tumor biology and possible clinical outcomes, global gene-expression patterns were analyzed in the primary tumors of patients with metastatic renal...

Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2

Schmidt, Laura S., Warren, Michelle B., Nickerson, Michael L., Weirich, Gregor, Matrosova, Vera, Toro, Jorge R., ...

Birt-Hogg-Dubé syndrome (BHD), an inherited autosomal genodermatosis characterized by benign tumors of the hair follicle, has been associated with renal neoplasia, lung cysts, and spontaneous...

Provocative Agents and the Diagnosis of Medullary Carcinoma of the Thyroid Gland

Wells, Samuel A., Baylin, Stephen B., Linehan, W. Marston, Farrell, Ruth E., Cox, Edwin B., Cooper, Cary W.

Twenty-six patients with known or suspected medullary thyroid carcinoma (MTC) and 21 normal control subjects were tested intravenously on four separate days with calcium gluconate (CG), 2 mg...

Medullary Thyroid Carcinoma: Relationship of Method of Diagnosis to Pathologic Staging

Wells, Samuel A., Baylin, Stephen B., Gann, Donald S., Farrell, Ruth E., Dilley, William G., Preissig, Sandra H., ...

Medullary thyroid carcinoma (MTC) develops in virtually all patients affected with multiple endocrine neoplasia type II (MEN II), a disease inherited as an autosomal dominant trait. The thyroid tumor...

The von Hippel-Lindau tumor-suppressor gene product forms a stable complex with human CUL-2, a member of the Cdc53 family of proteins

Pause, Arnim, Lee, Stephen, Worrell, Robert A., Chen, David Y. T., Burgess, Wilson H., Linehan, W. Marston, ...

The inactivation of the von Hippel-Lindau (VHL) gene predisposes affected individuals to VHL syndrome and is an early genetic event associated with sporadic renal cell carcinoma and CNS...

Defective placental vasculogenesis causes embryonic lethality in VHL-deficient mice

Gnarra, James R., Ward, Jerrold M., Porter, Forbes D., Wagner, Joseph R., Devor, Deborah E., Grinberg, Alex, ...

Inheritance of an inactivated form of the VHL tumor suppressor gene predisposes patients to develop von Hippel–Lindau disease, and somatic VHL inactivation is an early genetic event leading to the...

The von Hippel-Lindau Tumor Suppressor Gene Inhibits Hepatocyte Growth Factor/Scatter Factor-Induced Invasion and Branching Morphogenesis in Renal Carcinoma Cells

Koochekpour, Shahriar, Jeffers, Michael, Wang, Paul H., Gong, Changning, Taylor, Gregory A., Roessler, Lisa M., ...

Loss of function in the von Hippel-Lindau (VHL) tumor suppressor gene occurs in familial and most sporadic renal cell carcinomas (RCCs). VHL has been linked to the regulation of cell cycle cessation...

Predicting survival in patients with metastatic kidney cancer by gene-expression profiling in the primary tumor

Vasselli, James R., Shih, Joanna H., Iyengar, Shuba R., Maranchie, Jodi, Riss, Joseph, Worrell, Robert, ...

To identify potential molecular determinants of tumor biology and possible clinical outcomes, global gene-expression patterns were analyzed in the primary tumors of patients with metastatic renal...

Mutations in the Fumarate Hydratase Gene Cause Hereditary Leiomyomatosis and Renal Cell Cancer in Families in North America

Toro, Jorge R., Nickerson, Michael L., Wei, Ming-Hui, Warren, Michelle B., Glenn, Gladys M., Turner, Maria L., ...

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder characterized by smooth-muscle tumors of the skin and uterus and/or renal cancer. Although the identification...

Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome

Schmidt, Laura S., Nickerson, Michael L., Warren, Michelle B., Glenn, Gladys M., Toro, Jorge R., Merino, Maria J., ...

Birt-Hogg-Dubé syndrome (BHD), a genodermatosis characterized by multiple hamartomas of the hair follicle (fibrofolliculoma), predisposes individuals to an increased risk of developing renal...

Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2

Schmidt, Laura S., Warren, Michelle B., Nickerson, Michael L., Weirich, Gregor, Matrosova, Vera, Toro, Jorge R., ...

Birt-Hogg-Dubé syndrome (BHD), an inherited autosomal genodermatosis characterized by benign tumors of the hair follicle, has been associated with renal neoplasia, lung cysts, and spontaneous...

Provocative Agents and the Diagnosis of Medullary Carcinoma of the Thyroid Gland

Wells, Samuel A., Baylin, Stephen B., Linehan, W. Marston, Farrell, Ruth E., Cox, Edwin B., Cooper, Cary W.

Twenty-six patients with known or suspected medullary thyroid carcinoma (MTC) and 21 normal control subjects were tested intravenously on four separate days with calcium gluconate (CG), 2 mg...

Medullary Thyroid Carcinoma: Relationship of Method of Diagnosis to Pathologic Staging

Wells, Samuel A., Baylin, Stephen B., Gann, Donald S., Farrell, Ruth E., Dilley, William G., Preissig, Sandra H., ...

Medullary thyroid carcinoma (MTC) develops in virtually all patients affected with multiple endocrine neoplasia type II (MEN II), a disease inherited as an autosomal dominant trait. The thyroid tumor...

Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling

Baba, Masaya, Hong, Seung-Beom, Sharma, Nirmala, Warren, Michelle B., Nickerson, Michael L., Iwamatsu, Akihiro, ...

Birt–Hogg–Dubé syndrome, a hamartoma disorder characterized by benign tumors of the hair follicle, lung cysts, and renal neoplasia, is caused by germ-line mutations in the BHD(FLCN) gene, which...

Multiple Neuroendocrine Tumors of the Pancreas in von Hippel-Lindau Disease Patients : Histopathological and Molecular Genetic Analysis

Lubensky, Irina A., Pack, Svetlana, Ault, David, Vortmeyer, Alexander O., Libutti, Steven K., Choyke, Peter L., ...

Although pancreatic neuroendocrine tumors (NETs) in von Hippel-Lindau (VHL) disease have been reported, their pathological features have not been characterized. In addition, it is unknown whether...

Hereditary and Sporadic Papillary Renal Carcinomas with c-met Mutations Share a Distinct Morphological Phenotype

Lubensky, Irina A., Schmidt, Laura, Zhuang, Zhengping, Weirich, Gregor, Pack, Svetlana, Zambrano, Norman, ...

Germline mutations of c-met oncogene at 7q31 have been detected in patients with hereditary papillary renal cell carcinoma. In addition, c-met mutations were shown to play a role in 13% of patients...

Histopathology and Molecular Genetics of Multiple Cysts and Microcystic (Serous) Adenomas of the Pancreas in von Hippel-Lindau Patients

Mohr, Victoria H., Vortmeyer, Alexander O., Zhuang, Zhengping, Libutti, Steven K., Walther, McClellan M., Choyke, Peter L., ...

Microcystic adenoma and cysts of the pancreas occur sporadically or as a part of von Hippel-Lindau (VHL) disease. The pathology of pancreatic cystic disease in VHL patients has not been well...

Evaluation of Non-Formalin Tissue Fixation for Molecular Profiling Studies

Gillespie, John W., Best, Carolyn J.M., Bichsel, Verena E., Cole, Kristina A., Greenhut, Susan F., Hewitt, Stephen M., ...

Using a general strategy for evaluating clinical tissue specimens, we found that 70% ethanol fixation and paraffin embedding is a useful method for molecular profiling studies. Human prostate and...

Comparison of Snap Freezing versus Ethanol Fixation for Gene Expression Profiling of Tissue Specimens

Perlmutter, Mark A., Best, Carolyn J.M., Gillespie, John W., Gathright, Yvonne, González, Sergio, Velasco, Alfredo, ...

Frozen tissue specimens are the gold standard for molecular analysis. However, snap freezing presents several challenges regarding collection and storage of tissue, and preservation of histological...

Lung Cysts, Spontaneous Pneumothorax, and Genetic Associations in 89 Families with Birt-Hogg-Dubé Syndrome

Toro, Jorge R., Pautler, Stephen E., Stewart, Laveta, Glenn, Gladys M., Weinreich, Michael, Toure, Ousmane, ...

Rationale: Birt-Hogg-Dubé syndrome (BHDS) is an autosomal, dominantly inherited genodermatosis that predisposes to fibrofolliculomas, kidney neoplasms, lung cysts, and spontaneous pneumothorax.

Deciphering von Hippel-Lindau (VHL/Vhl)-Associated Pancreatic Manifestations by Inactivating Vhl in Specific Pancreatic Cell Populations

Shen, H.-C. Jennifer, Adem, Asha, Ylaya, Kris, Wilson, Arianne, He, Mei, Lorang, Dominique, ...

The von Hippel-Lindau (VHL) syndrome is a pleomorphic familial disease characterized by the development of highly vascularized tumors, such as hemangioblastomas of the central nervous system,...

Differential expression of the regulated catecholamine secretory pathway in different hereditary forms of pheochromocytoma

Eisenhofer, Graeme, Huynh, Thanh-Truc, Elkahloun, Abdel, Morris, John C., Bratslavsky, Gennady, Linehan, W. Marston, ...

Pheochromocytomas in patients with von Hippel-Lindau (VHL) syndrome and multiple endocrine neoplasia type 2 (MEN 2) differ in the types and amounts of catecholamines produced and the resulting signs...

Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2

Hasumi, Yukiko, Baba, Masaya, Ajima, Rieko, Hasumi, Hisashi, Valera, Vladimir A., Klein, Mara E., ...

Germline mutations in the BHD/FLCN tumor suppressor gene predispose patients to develop renal tumors in the hamartoma syndrome, Birt-Hogg-Dubé (BHD). BHD encodes folliculin, a protein with unknown...