PMID: 9663592Jul 15, 1998Paper

Germline mutations in the vhl gene in patients presenting with phaeochromocytomas

International Journal of Cancer. Journal International Du Cancer
E van der HarstJ W Koper

Abstract

It has been shown that an appreciable percentage of patients presenting with primary, apparently sporadic phaeochromocytomas may in fact have von-Hippel-Lindau (VHL) disease. In order to investigate this, we retrospectively screened 68 patients, who had been operated on for phaeochromocytomas, for the presence of germline mutations in the vhl gene. DNA was isolated from peripheral-blood leukocytes and used to screen the entire coding sequence and the intron-exon boundaries of the vhl gene for mutations, using a PCR-based SSCP strategy. When an abnormal pattern was found in the SSCP analysis, sequence analysis was carried out. We found SSC variants in the vhl gene in 8 of the 68 patients. Of 6 patients, 2 turned out to be related (an uncle and his nephew), and they carried the same mis-sense mutation: R64P. In 4 other patients, mis-sense mutations, P25L, L63P, G144Q and I147T, were also identified. None of these mutations has been described, and 3 of them (P25L, L63P and R64P) are located closer to the N terminus of the vhl protein than any reported vhl mutation. In the remaining 2 cases, the mutations were localized not in the coding sequence but in the intronic sequence (but not within splice-sites), adjacent to the exon, so t...Continue Reading

References

Jul 1, 1991·Journal of Medical Genetics·E R MaherN Morton
Nov 18, 1993·The New England Journal of Medicine·H P NeumannG Kirste
Jun 7, 1994·Proceedings of the National Academy of Sciences of the United States of America·K P GarrettR C Conaway
Jan 1, 1997·Kidney International·H P Neumann, B Zbar
Jul 1, 1997·Human Molecular Genetics·E R WoodwardE R Maher

❮ Previous
Next ❯

Citations

Sep 3, 2002·Journal of Medical Genetics·B E Baysal
Oct 10, 2007·World Journal of Surgical Oncology·Jennifer M J SchreinemakersCornelis J M Lips
Jan 16, 2008·Proceedings of the National Academy of Sciences of the United States of America·Jin Liu, Ruth Nussinov
Feb 22, 2014·Ophthalmic Genetics·Elisabeth WittströmSten Andréasson
Nov 26, 2009·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Wen-Chung WangYen-Chein Lai
Feb 26, 2013·Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association·Jan-Helge KlinglerSven Gläsker
Aug 24, 2006·Neoplasia : an International Journal for Oncology Research·Michael Ohh
Aug 10, 2000·The American Journal of Pathology·H DannenbergR R de Krijger
Feb 19, 2005·Journal of Surgical Oncology·Elisabeth Edström ElderCatharina Larsson
Mar 16, 2006·The Journal of Pathology·F H van NederveenR R de Krijger
Mar 10, 2001·Experimental Cell Research·K Kondo, W G Kaelin
Jun 19, 2003·Pathology, Research and Practice·Jean-Philippe P TheurillatEsther B Bachli
Dec 18, 2001·International Journal of Cancer. Journal International Du Cancer·B P WijnhovenUNKNOWN Rotterdam Esophageal Tumor Study Group
Oct 17, 2002·Annals of the New York Academy of Sciences·Christian A KochKarel Pacak
Oct 31, 2000·International Journal of Cancer. Journal International Du Cancer·S MiyakisD A Spandidos
Oct 26, 1999·American Journal of Medical Genetics·J F BradleyP G Rothberg
Oct 7, 1998·International Journal of Cancer. Journal International Du Cancer·E van der HarstP Komminoth
Jun 10, 2000·European Journal of Clinical Investigation·J W Koper, S W Lamberts
Apr 4, 2003·International Journal of Cancer. Journal International Du Cancer·Hilde DannenbergWinand N M Dinjens
Oct 7, 2008·Mammalian Genome : Official Journal of the International Mammalian Genome Society·R RajasekaranRao Sethumadhavan
Jul 12, 2008·The Oncologist·Joel T AdlerStan B Sidhu
Feb 25, 2000·Current Opinion in Oncology·N N Hanna, D E Kenady
Dec 6, 2002·The Journal of Clinical Endocrinology and Metabolism·Christian A KochGeorge P Chrousos
Aug 21, 2003·Journal of the National Cancer Institute·Jennifer BryantKatherine L Nathanson
Jun 1, 2006·The Journal of Clinical Endocrinology and Metabolism·Camilo JiménezRobert F Gagel
Nov 14, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Heather HampelUNKNOWN Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committe
Dec 22, 2004·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·William Y Kim, William G Kaelin
Jun 8, 2004·American Journal of Physiology. Renal Physiology·Roxana I SufanMichael Ohh
Oct 8, 2009·The Journal of Clinical Endocrinology and Metabolism·José GaalRonald R de Krijger
Aug 4, 2006·Molecular Diagnosis & Therapy·Rachel K PettmanMark D Ludman
Jan 1, 2005·Hereditary Cancer in Clinical Practice·Frederik J HesCornelis Jm Lips
Nov 15, 2006·Annals of the New York Academy of Sciences·M CastellanoE Agabiti-Rosei
Nov 15, 2006·Annals of the New York Academy of Sciences·E KorpershoekW N M Dinjens
Dec 4, 2012·Journal of Neuro-oncology·Yan LuXiao-Fei Qi

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.