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Sökning: onr:"swepub:oai:DiVA.org:liu-101877" > Germline NF1 mutati...

  • Bausch, BirkeDepartment of Nephrology, University Medical Center Freiburg, D-79106 Freiburg, Germany (författare)

Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

  • Artikel/kapitelEngelska2007

Förlag, utgivningsår, omfång ...

  • The Endocrine Society,2007
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:liu-101877
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-101877URI
  • https://doi.org/10.1210/jc.2006-2833DOI

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  • Språk:engelska
  • Sammanfattning på:engelska

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Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • BACKGROUND: Neurofibromatosis type 1 (NF1) is a pheochromocytoma-associated syndrome. Because of the low prevalence of pheochromocytoma in NF1, we ascertained subjects by pheochromocytoma that also had NF1 in the hope of describing the germline NF1 mutational spectra of NF1-related pheochromocytoma.MATERIALS AND METHODS: An international registry for NF1-pheochromocytomas was established. Mutation scanning was performed using denaturing HPLC for intragenic variation and quantitative PCR for large deletions. Loss-of-heterozygosity analysis using markers in and around NF1 was performed.RESULTS: There were 37 eligible subjects (ages 14-70 yr). Of 21 patients with corresponding tumor available, 67% showed somatic loss of the nonmutated allele at the NF1 locus vs. 0 of 12 sporadic tumors (P = 0.0002). Overall, 86% of the 37 patients had exonic or splice site mutations, 14% large deletions or duplications; 79% of the mutations are novel. The cysteine-serine rich domain (CSR) was affected in 35% but the RAS GTPase activating protein domain (RGD) in only 13%. There did not appear to be an association between any clinical features, particularly pheochromocytoma presentation and severity, and NF1 mutation genotype.CONCLUSIONS: The germline NF1 mutational spectra comprise intragenic mutations and deletions in individuals with pheochromocytoma and NF1. NF1 mutations tended to cluster in the CSR over the RAS-GAP domain, suggesting that CSR plays a more prominent role in individuals with NF1-pheochromocytoma than in NF1 individuals without this tumor. Loss-of-heterozygosity of NF1 markers in NF1-related pheochromocytoma was significantly more frequent than in sporadic pheochromocytoma, providing further molecular evidence that pheochromocytoma is a true component of NF1.

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Borozdin, WiktorInstitute for Human Genetics and Anthropology, University of Freiburg, Freiburg, Germany / Center of Human Genetics, Freiburg, Germany (författare)
  • Mautner, Victor FDepartment of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany (författare)
  • Hoffmann, Michael MDepartment of Laboratory Medicine, University Medical Center Freiburg, D-79106 Freiburg, Germany (författare)
  • Boehm, DetlefDepartment of Nephrology, University Medical Center Freiburg, D-79106 Freiburg, Germany (författare)
  • Robledo, MercedesHereditary Endocrine Cancer Group, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain (författare)
  • Cascon, AlbertoHereditary Endocrine Cancer Group, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain (författare)
  • Harenberg, TomasDepartment of Nephrology, University Medical Center Freiburg, D-79106 Freiburg, Germany (författare)
  • Schiavi, FrancescaIstituto Oncologico Veneto Instituto di Ricovero e Cura a Carattere Scientifico, Padova, Italy (författare)
  • Pawlu, ChristianDepartment of Nephrology, University Medical Center Freiburg, D-79106 Freiburg, Germany (författare)
  • Peczkowska, MariolaDepartment of Hypertension, Institute of Cardiology, Warsaw, Poland (författare)
  • Letizia, ClaudioDepartment of Clinical Sciences, University of Rome La Sapienza, Rome, Italy (författare)
  • Calvieri, StefanoDepartment of Dermatology, University of Rome La Sapienza, Rome, Italy (författare)
  • Arnaldi, GiorgioDepartment of Endocrinology, Azienda Ospedaliero-Universitaria Ospedali Riuniti di Ancona, Ancona, Italy (författare)
  • Klingenberg-Noftz, Rolf DMedical Clinic I, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Lübeck, Germany (författare)
  • Reisch, NicoleDepartment of Endocrinology, Ludwig-Maximilians-University of Munich, Munich, Germany (författare)
  • Fassina, AmbrogioDepartment of Pathology, University of Padova, Padova, Italy (författare)
  • Brunaud, LaurentDepartment of Digestive and Endocrine Surgery, University Hospital Nancy, University of Nancy, Nancy, France (författare)
  • Walter, Martin AInstitute of Nuclear Medicine, Division of Endocrinology, University of Basel, Basel, Switzerland (författare)
  • Mannelli, MassimoDepartment of Clinical Pathophysiology, Endocrine Unit, University of Florence, Florence, Italy (författare)
  • MacGregor, GrahamBlood Pressure Unit, Department of Cardiovascular Sciences, St. George’s University, London, United Kingdom (författare)
  • Palazzo, F FaustoEndocrine Surgery Unit, Hammersmith Hospital, London, United Kingdom (författare)
  • Barontini, MartaCentro de Investigaciones Endocrinologicas-Consejo Nacional de Investigaciones Científicas y Técnicas, Buenos Aires, Argentina (författare)
  • Walz, Martin KDepartment of Surgery, Kliniken Essen-Mitte, Essen, Germany (författare)
  • Kremens, BernhardDepartment of Pediatrics, University of Essen, Essen, Germany (författare)
  • Brabant, GeorgDepartment of Endocrinology, Medizinische Hochschule, Hannover, Germany (författare)
  • Pfäffle, RolandDepartment of Pediatrics, University of Leipzig, Leipzig, Germany (författare)
  • Koschker, Ann-CathrinDepartment of Internal Medicine I-Endocrine and Diabetes, University of Wuerzburg, Wuerzburg, Germany (författare)
  • Lohoefner, FelixDepartment of Surgery, Hospital of the German Red Cross, Berlin, Germany (författare)
  • Mohaupt, MarkusDepartment of Nephrology and Hypertension, University of Berne, Berne, Switzerland (författare)
  • Gimm, OliverDepartment of Visceral Surgery, University of Halle, Halle, Germany(Swepub:liu)oligi51 (författare)
  • Jarzab, BarbaraDepartment of Nuclear Medicine and Endocrine Oncology, M. Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Gliwice, Poland (författare)
  • McWhinney, Sarah RGenomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA / Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA (författare)
  • Opocher, GiuseppeIstituto Oncologico Veneto Instituto di Ricovero e Cura a Carattere Scientifico, Padova, Italy (författare)
  • Januszewicz, AndrzejDepartment of Hypertension, Institute of Cardiology, Warsaw, Poland (författare)
  • Kohlhase, JürgenInstitute for Human Genetics and Anthropology, University of Freiburg, Freiburg, Germany / Center of Human Genetics, Freiburg, Germany (författare)
  • Eng, CharisGenomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA / Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA (författare)
  • Neumann, Hartmut P HDepartment of Nephrology, University Medical Center Freiburg, D-79106 Freiburg, Germany (författare)
  • Department of Nephrology, University Medical Center Freiburg, D-79106 Freiburg, GermanyInstitute for Human Genetics and Anthropology, University of Freiburg, Freiburg, Germany / Center of Human Genetics, Freiburg, Germany (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Journal of Clinical Endocrinology and Metabolism: The Endocrine Society92:7, s. 2784-920021-972X1945-7197

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