PMID: 7563486Oct 11, 1995Paper

Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II

JAMA : the Journal of the American Medical Association
H P NeumannH Brauch

Abstract

Multiple endocrine neoplasia, type II (MEN-II) is an autosomal dominant disorder characterized by tumors of thyroid C cells and pheochromocytoma. Recently, germline mutations in the RET proto-oncogene have been identified in patients with MEN-II. The aims of this study were (1) to define the mutations in clinically diagnosed MEN-II families, (2) to compare the results of genetic and biochemical testing, and (3) to evaluate the impact of mutation analyses for the members of these families. Register-based survey study of clinically affected and unaffected members of MEN-II families. Register of families from Germany and Spain with pheochromocytomas. Two research laboratories at Cambridge University in the United Kingdom. We investigated consenting affected and unaffected members belonging to a series of 10 families who met the clinical criteria for MEN-II. (1) Presence or absence of germline mutation in the RET proto-oncogene in affected and unaffected members of the 10 families, and (2) in the absence of RET mutation in a given family, presence or absence of germline mutation in the von Hippel-Lindau (VHL) gene, which is the susceptibility gene involved in a closely related syndrome, von Hippel-Lindau disease. In eight of these ...Continue Reading

Citations

Jan 7, 2014·Endocrine-related Cancer·Hartmut P H Neumann
May 19, 2006·BMC Cancer·Christian A KochRalf Paschke
Feb 21, 2009·The Journal of Biological Chemistry·Katja KnauthAlexander Buchberger
Nov 13, 2009·The Journal of Clinical Endocrinology and Metabolism·Zoran ErlicHartmut P H Neumann
Mar 26, 2011·International Journal of Pediatric Endocrinology·M Sara Rosenthal, Douglas S Diekema
Dec 31, 1997·Medicine·E R Maher, W G Kaelin
Nov 28, 2001·Current Opinion in Neurology·K B Sims
Feb 1, 2007·Brain : a Journal of Neurology·Emma R WoodwardEamonn R Maher
Sep 19, 2009·American Journal of Medical Genetics. Part a·Alisdair McNeillEamonn R Maher
Oct 7, 2006·Human Mutation·Kai Ren OngEamonn R Maher
Feb 28, 2006·American Journal of Medical Genetics. Part a·Mary-Alice AbbottRobert M Greenstein
Dec 19, 2006·Critical Reviews in Clinical Laboratory Sciences·Gian Paolo RossiAchille C Pessina
Jan 1, 1997·Kidney International·H P Neumann, B Zbar
Dec 15, 2017·Histopathology·Julie Guilmette, Vania Nosé
Jan 1, 1997·Genetic Testing·C L CarterP D Murphy
May 11, 2005·Familial Cancer·Mariola Peczkowska, Andrzej Januszewicz
Jan 21, 2014·Nature Reviews. Cancer·Patricia L M Dahia
Sep 20, 2017·Oncogene·D Tarade, M Ohh
Feb 12, 2017·Oncotarget·Svetlana O ZhikrivetskayaAnna V Kudryavtseva
Aug 16, 2003·Endocrine Reviews·Emmanuel L Bravo, Rodrigo Tagle

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