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Sökning: WFRF:(van der Luijt Rob B) > (2007-2009) > Germline CDKN1B/p27...

  • Georgitsi, MarianthiDepartment of Medical Genetics, 00014 University of Helsinki, Finland (författare)

Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.

  • Artikel/kapitelEngelska2007

Förlag, utgivningsår, omfång ...

  • The Endocrine Society,2007
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:liu-101878
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-101878URI
  • https://doi.org/10.1210/jc.2006-2843DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

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

Anmärkningar

  • CONTEXT: Germline mutations in the MEN1 gene predispose to multiple endocrine neoplasia type 1 (MEN1) syndrome, but in up to 20-25% of clinical MEN1 cases, no MEN1 mutations can be found. Recently, a germline mutation in the CDKN1B gene, encoding p27(Kip1), was reported in one suspected MEN1 family with two acromegalic patients.OBJECTIVE: Our objective was to evaluate the role of CDKN1B/p27(Kip1) in human tumor predisposition in patients clinically suspected of MEN1 but testing negative for MEN1 germline mutation as well as in familial and sporadic acromegaly/pituitary adenoma patients.DESIGN: Genomic DNA was analyzed for germline mutations in the CDKN1B/p27(Kip1) gene by PCR amplification and direct sequencing.SETTING: The study was conducted at nonprofit academic research and medical centers.PATIENTS: Thirty-six Dutch and one German suspected MEN1 patient, who previously tested negative for germline MEN1 gene mutations, were analyzed. In addition, 19 familial and 50 sporadic acromegaly/pituitary adenoma patients from Europe and the United States were included in the study.MAIN OUTCOME MEASURES: We analyzed germline CDKN1B/p27(Kip1) mutations in individuals with pituitary adenoma and MEN1-like features.RESULTS: A heterozygous 19-bp duplication (c.59_77dup19) leading to a truncated protein product was identified in one Dutch patient with suspected MEN1 phenotype, pituitary adenoma, carcinoid tumor, and hyperparathyroidism (one of 36, 2.8%). No mutations were detected in either familial or sporadic acromegaly/pituitary adenoma patients.CONCLUSIONS: Our results support the previous finding that germline CDKN1B/p27(Kip1) mutations predispose to a human MEN1-like condition. However, such mutations appear uncommon in suspected MEN1 cases and rare or nonexistent in familial or sporadic acromegaly/pituitary adenoma patients.

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

  • Raitila, AnniinaDepartment of Medical Genetics, 00014 University of Helsinki, Finland (författare)
  • Karhu, AuliDepartment of Medical Genetics, 00014 University of Helsinki, Finland (författare)
  • van der Luijt, Rob BDepartment of Medical Genetics, University Medical Centre Utrecht, 3508 GA Utrecht, The Netherlands (författare)
  • Aalfs, Cora MDepartment of Clinical Genetics, Academic Medical Centre, 1105 AZ Amsterdam, The Netherlands (författare)
  • Sane, TimoDepartment of Endocrinology, Helsinki University Central Hospital, 00029 Helsinki, Finland (författare)
  • Vierimaa, OutiDepartment of Clinical Genetics, Oulu University Hospital, 90029 Oulu, Finland (författare)
  • Mäkinen, Markus JDepartment of Pathology, University of Oulu, 90014 Oulu, Finland (författare)
  • Tuppurainen, KaroliinaDepartment of Pathology, University of Oulu, 90014 Oulu, Finland (författare)
  • Paschke, RalphMedical Department III, Leipzig University, 04103 Leipzig, Germany (författare)
  • Gimm, OliverDepartment of Surgery, Martin Luther University Halle-Wittenberg, 06120 Halle, Germany(Swepub:liu)oligi51 (författare)
  • Koch, Christian ADivision of Endocrinology, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA (författare)
  • Gündogdu, SadiDivision of Endocrinology-Metabolism and Diabetes, Cerrahpaşa Medical Faculty, University of Istanbul, 34303 Istanbul, Turkey (författare)
  • Lucassen, AnnekeWessex Clinical Genetics Service, Princess Anne Hospital, SO16 5YA Southampton, United Kingdom (författare)
  • Tischkowitz, MarcDepartments of Human Genetics, Oncology, and Medicine, McGill University, Sir Mortimer B. Davis Jewish General Hospital, Montreal, Quebec, Canada H3T 1E2 (författare)
  • Izatt, LouiseDepartment of Clinical Genetics, New Guy’s House, Guy’s Hospital, London SE1 9RT, United Kingdom (författare)
  • Aylwin, SimonDepartment of Medicine, King’s College Hospital, Denmark Hill, London SE5 9RS, United Kingdom (författare)
  • Bano, GulDepartment of Endocrinology and Diabetes, Thomas Addison Unit, London SW17 0QT, United Kingdom (författare)
  • Hodgson, ShirleyDepartment of Clinical Genetics, St. Georges, University of London, London SW17 ORE, United Kingdom (författare)
  • De Menis, ErnestoDepartment of Internal Medicine, General Hospital, 31100 Treviso, Italy (författare)
  • Launonen, VirpiDepartment of Medical Genetics, 00014 University of Helsinki, Finland (författare)
  • Vahteristo, PiaDepartment of Medical Genetics, 00014 University of Helsinki, Finland (författare)
  • Aaltonen, Lauri ADepartment of Medical Genetics, 00014 University of Helsinki, Finland (författare)
  • Department of Medical Genetics, 00014 University of Helsinki, FinlandDepartment of Medical Genetics, University Medical Centre Utrecht, 3508 GA Utrecht, The Netherlands (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Journal of Clinical Endocrinology and Metabolism: The Endocrine Society92:8, s. 3321-50021-972X1945-7197

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