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Germline CDKN1B/p27...
Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.
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- Georgitsi, Marianthi (författare)
- Department of Medical Genetics, 00014 University of Helsinki, Finland
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- Raitila, Anniina (författare)
- Department of Medical Genetics, 00014 University of Helsinki, Finland
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- Karhu, Auli (författare)
- Department of Medical Genetics, 00014 University of Helsinki, Finland
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- van der Luijt, Rob B (författare)
- Department of Medical Genetics, University Medical Centre Utrecht, 3508 GA Utrecht, The Netherlands
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- Aalfs, Cora M (författare)
- Department of Clinical Genetics, Academic Medical Centre, 1105 AZ Amsterdam, The Netherlands
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- Sane, Timo (författare)
- Department of Endocrinology, Helsinki University Central Hospital, 00029 Helsinki, Finland
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- Vierimaa, Outi (författare)
- Department of Clinical Genetics, Oulu University Hospital, 90029 Oulu, Finland
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- Mäkinen, Markus J (författare)
- Department of Pathology, University of Oulu, 90014 Oulu, Finland
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- Tuppurainen, Karoliina (författare)
- Department of Pathology, University of Oulu, 90014 Oulu, Finland
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- Paschke, Ralph (författare)
- Medical Department III, Leipzig University, 04103 Leipzig, Germany
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- Gimm, Oliver (författare)
- Department of Surgery, Martin Luther University Halle-Wittenberg, 06120 Halle, Germany
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- Koch, Christian A (författare)
- Division of Endocrinology, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA
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- Gündogdu, Sadi (författare)
- Division of Endocrinology-Metabolism and Diabetes, Cerrahpaşa Medical Faculty, University of Istanbul, 34303 Istanbul, Turkey
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- Lucassen, Anneke (författare)
- Wessex Clinical Genetics Service, Princess Anne Hospital, SO16 5YA Southampton, United Kingdom
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- Tischkowitz, Marc (författare)
- Departments of Human Genetics, Oncology, and Medicine, McGill University, Sir Mortimer B. Davis Jewish General Hospital, Montreal, Quebec, Canada H3T 1E2
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- Izatt, Louise (författare)
- Department of Clinical Genetics, New Guy’s House, Guy’s Hospital, London SE1 9RT, United Kingdom
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- Aylwin, Simon (författare)
- Department of Medicine, King’s College Hospital, Denmark Hill, London SE5 9RS, United Kingdom
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- Bano, Gul (författare)
- Department of Endocrinology and Diabetes, Thomas Addison Unit, London SW17 0QT, United Kingdom
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- Hodgson, Shirley (författare)
- Department of Clinical Genetics, St. Georges, University of London, London SW17 ORE, United Kingdom
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- De Menis, Ernesto (författare)
- Department of Internal Medicine, General Hospital, 31100 Treviso, Italy
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- Launonen, Virpi (författare)
- Department of Medical Genetics, 00014 University of Helsinki, Finland
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- Vahteristo, Pia (författare)
- Department of Medical Genetics, 00014 University of Helsinki, Finland
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- Aaltonen, Lauri A (författare)
- Department of Medical Genetics, 00014 University of Helsinki, Finland
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(creator_code:org_t)
- The Endocrine Society, 2007
- 2007
- Engelska.
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 92:8, s. 3321-5
- Relaterad länk:
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https://academic.oup...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
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Georgitsi, Maria ...
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Raitila, Anniina
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Karhu, Auli
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van der Luijt, R ...
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Aalfs, Cora M
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Sane, Timo
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visa fler...
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Vierimaa, Outi
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Mäkinen, Markus ...
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Tuppurainen, Kar ...
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Paschke, Ralph
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Gimm, Oliver
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Koch, Christian ...
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Gündogdu, Sadi
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Lucassen, Anneke
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Tischkowitz, Mar ...
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Izatt, Louise
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Aylwin, Simon
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Bano, Gul
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Hodgson, Shirley
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De Menis, Ernest ...
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Launonen, Virpi
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Vahteristo, Pia
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Aaltonen, Lauri ...
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