GermlineNF1Mutational Spectra and Loss-of-Heterozygosity Analyses in Patients with Pheochromocytoma and Neurofibromatosis Type 1

Author:

Bausch Birke1,Borozdin Wiktor23,Mautner Victor F.4,Hoffmann Michael M.5,Boehm Detlef1,Robledo Mercedes6,Cascon Alberto6,Harenberg Tomas1,Schiavi Francesca7,Pawlu Christian1,Peczkowska Mariola8,Letizia Claudio9,Calvieri Stefano10,Arnaldi Giorgio11,Klingenberg-Noftz Rolf D.12,Reisch Nicole13,Fassina Ambrogio14,Brunaud Laurent15,Walter Martin A.16,Mannelli Massimo17,MacGregor Graham18,Palazzo F. Fausto19,Barontini Marta20,Walz Martin K.21,Kremens Bernhard22,Brabant Georg23,Pfäffle Roland24,Koschker Ann-Cathrin25,Lohoefner Felix26,Mohaupt Markus27,Gimm Oliver28,Jarzab Barbara29,McWhinney Sarah R.3031,Opocher Giuseppe7,Januszewicz Andrzej8,Kohlhase Jürgen23,Eng Charis3031,Neumann Hartmut P. H.1

Affiliation:

1. Departments of Nephrology (B.B., D.B., T.H., C.P., H.P.H.N.), University Medical Center Freiburg, D-79106 Freiburg, Germany

2. Center of Human Genetics (W.B., J.K.), Freiburg, Germany

3. Institute for Human Genetics and Anthropology (W.B., J.K.), University of Freiburg, Freiburg, Germany

4. Department of Maxillofacial Surgery (V.F.M.), University Hospital Eppendorf, Hamburg, Germany

5. Department of Laboratory Medicine (M.M.H.), University Medical Center Freiburg, D-79106 Freiburg, Germany

6. Department of Hereditary Endocrine Cancer Group (M.R., A.C.), Centro Nacional de Investigaciones Oncologicas, Madrid, Spain

7. Istituto Oncologico Veneto Instituto di Ricovero e Cura a Carattere Scientifico (F.S., G.O.), Padova, Italy

8. Department of Hypertension (M.P., A.J.), Institute of Cardiology, Warsaw, Poland

9. Departments of Clinical Sciences (C.L.), University of Rome La Sapienza, Rome, Italy

10. Department of Dermatology (S.C.), University of Rome La Sapienza, Rome, Italy

11. Department of Endocrinology (G.A.), Azienda Ospedaliero-Universitaria Ospedali Riuniti di Ancona, Ancona, Italy

12. Department of Medical Clinic I (R.D.K.-N.), Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Lübeck, Germany

13. Department of Endocrinology (N.R.), Ludwig-Maximilians-University of Munich, Munich, Germany

14. Department of Pathology (A.F.), University of Padova, Padova, Italy

15. Department of Digestive and Endocrine Surgery (L.B.), University Hospital Nancy, University of Nancy, Nancy, France

16. Institute of Nuclear Medicine (M.A.W.), Division of Endocrinology, University of Basel, Basel, Switzerland

17. Department of Clinical Pathophysiology, Endocrine Unit (M.Ma.), University of Florence, Florence, Italy

18. Department of Blood Pressure Unit (G.M.), Department of Cardiovascular Sciences, St. George’s University, London, United Kingdom

19. Department of Endocrine Surgery Unit (F.F.P.), Hammersmith Hospital, London, United Kingdom

20. Department of Centro de Investigaciones Endocrinologicas-Consejo Nacional de Investigaciones Científicas y Técnicas (M.B.), Buenos Aires, Argentina

21. Department of Surgery (M.K.W.), Kliniken Essen-Mitte, Essen, Germany

22. Department of Pediatrics (B.K.), University of Essen, Essen, Germany

23. Department of Endocrinology (G.B.), Medizinische Hochschule, Hannover, Germany

24. Department of Pediatrics (R.P.), University of Leipzig, Leipzig, Germany

25. Department of Internal Medicine I-Endocrine and Diabetes (A.-C.K.), University of Wuerzburg, Wuerzburg, Germany

26. Department of Surgery (F.L.), Hospital of the German Red Cross, Berlin, Germany

27. Department of Nephrology and Hypertension (M.Mo.), University of Berne, Berne, Switzerland

28. Department of Visceral Surgery (O.G.), University of Halle, Halle, Germany

29. Department of Nuclear Medicine and Endocrine Oncology (B.J.), M. Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Gliwice, Poland

30. Department of Genetics (S.R.M., C.E.), Case Western Reserve University School of Medicine, Cleveland, Ohio 44106

31. Department of Genomic Medicine Institute (S.R.M., C.E.), Cleveland Clinic Foundation, Cleveland, Ohio 44195

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference46 articles.

1. Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma.;Bausch;N Engl J Med,2006

2. Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma.;Bausch;J Clin Endocrinol Metab,2006

3. Genetic testing for cancer predisposition;Eng;Annu Rev Med [Erratum (2002) 53:xi],2001

4. Germ-line mutations in nonsyndromic pheochromocytoma.;Neumann;N Engl J Med,2002

5. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations;Neumann;JAMA [Erratum (2004) 292:1686],2004

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