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Germline CDKN1B/p27...
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Georgitsi, MarianthiDepartment of Medical Genetics, 00014 University of Helsinki, Finland
(author)
Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.
- Article/chapterEnglish2007
Publisher, publication year, extent ...
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The Endocrine Society,2007
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:liu-101878
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https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-101878URI
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https://doi.org/10.1210/jc.2006-2843DOI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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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.
Added entries (persons, corporate bodies, meetings, titles ...)
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Raitila, AnniinaDepartment of Medical Genetics, 00014 University of Helsinki, Finland
(author)
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Karhu, AuliDepartment of Medical Genetics, 00014 University of Helsinki, Finland
(author)
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van der Luijt, Rob BDepartment of Medical Genetics, University Medical Centre Utrecht, 3508 GA Utrecht, The Netherlands
(author)
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Aalfs, Cora MDepartment of Clinical Genetics, Academic Medical Centre, 1105 AZ Amsterdam, The Netherlands
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Sane, TimoDepartment of Endocrinology, Helsinki University Central Hospital, 00029 Helsinki, Finland
(author)
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Vierimaa, OutiDepartment of Clinical Genetics, Oulu University Hospital, 90029 Oulu, Finland
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Mäkinen, Markus JDepartment of Pathology, University of Oulu, 90014 Oulu, Finland
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Tuppurainen, KaroliinaDepartment of Pathology, University of Oulu, 90014 Oulu, Finland
(author)
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Paschke, RalphMedical Department III, Leipzig University, 04103 Leipzig, Germany
(author)
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Gimm, OliverDepartment of Surgery, Martin Luther University Halle-Wittenberg, 06120 Halle, Germany(Swepub:liu)oligi51
(author)
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Koch, Christian ADivision of Endocrinology, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA
(author)
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Gündogdu, SadiDivision of Endocrinology-Metabolism and Diabetes, Cerrahpaşa Medical Faculty, University of Istanbul, 34303 Istanbul, Turkey
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Lucassen, AnnekeWessex Clinical Genetics Service, Princess Anne Hospital, SO16 5YA Southampton, United Kingdom
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Tischkowitz, MarcDepartments of Human Genetics, Oncology, and Medicine, McGill University, Sir Mortimer B. Davis Jewish General Hospital, Montreal, Quebec, Canada H3T 1E2
(author)
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Izatt, LouiseDepartment of Clinical Genetics, New Guy’s House, Guy’s Hospital, London SE1 9RT, United Kingdom
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Aylwin, SimonDepartment of Medicine, King’s College Hospital, Denmark Hill, London SE5 9RS, United Kingdom
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Bano, GulDepartment of Endocrinology and Diabetes, Thomas Addison Unit, London SW17 0QT, United Kingdom
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Hodgson, ShirleyDepartment of Clinical Genetics, St. Georges, University of London, London SW17 ORE, United Kingdom
(author)
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De Menis, ErnestoDepartment of Internal Medicine, General Hospital, 31100 Treviso, Italy
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Launonen, VirpiDepartment of Medical Genetics, 00014 University of Helsinki, Finland
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Vahteristo, PiaDepartment of Medical Genetics, 00014 University of Helsinki, Finland
(author)
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Aaltonen, Lauri ADepartment of Medical Genetics, 00014 University of Helsinki, Finland
(author)
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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)
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In:Journal of Clinical Endocrinology and Metabolism: The Endocrine Society92:8, s. 3321-50021-972X1945-7197
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Georgitsi, Maria ...
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Raitila, Anniina
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Karhu, Auli
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Aalfs, Cora M
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Sane, Timo
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Vierimaa, Outi
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Paschke, Ralph
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Gimm, Oliver
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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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