دورية أكاديمية
Founder Effect of the RET C611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.
| العنوان: | Founder Effect of the RET C611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study. |
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| المؤلفون: | Mathiesen JS; 1 Department of ORL Head and Neck Surgery, Odense University Hospital , Odense, Denmark .; 2 Department of Clinical Research, University of Southern Denmark , Odense, Denmark ., Kroustrup JP; 3 Department of Clinical Medicine and Endocrinology, Aalborg University Hospital , Aalborg, Denmark ., Vestergaard P; 3 Department of Clinical Medicine and Endocrinology, Aalborg University Hospital , Aalborg, Denmark ., Stochholm K; 4 Department of Internal Medicine and Endocrinology, Aarhus University Hospital , Aarhus, Denmark ., Poulsen PL; 4 Department of Internal Medicine and Endocrinology, Aarhus University Hospital , Aarhus, Denmark ., Rasmussen ÅK; 5 Department of Medical Endocrinology, Copenhagen University Hospital , Copenhagen, Denmark ., Feldt-Rasmussen U; 5 Department of Medical Endocrinology, Copenhagen University Hospital , Copenhagen, Denmark ., Gaustadnes M; 6 Department of Molecular Medicine, Aarhus University Hospital , Aarhus, Denmark ., Ørntoft TF; 6 Department of Molecular Medicine, Aarhus University Hospital , Aarhus, Denmark ., Rossing M; 7 Center for Genomic Medicine, Copenhagen University Hospital , Copenhagen, Denmark ., Nielsen FC; 7 Center for Genomic Medicine, Copenhagen University Hospital , Copenhagen, Denmark ., Albrechtsen A; 8 Bioinformatics Center, Department of Biology, University of Copenhagen , Copenhagen, Denmark ., Brixen K; 2 Department of Clinical Research, University of Southern Denmark , Odense, Denmark ., Godballe C; 1 Department of ORL Head and Neck Surgery, Odense University Hospital , Odense, Denmark ., Frederiksen AL; 2 Department of Clinical Research, University of Southern Denmark , Odense, Denmark .; 9 Department of Clinical Genetics, Odense University Hospital , Odense, Denmark . |
| المصدر: | Thyroid : official journal of the American Thyroid Association [Thyroid] 2017 Dec; Vol. 27 (12), pp. 1505-1510. Date of Electronic Publication: 2017 Nov 03. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Mary Ann Liebert Publishers Country of Publication: United States NLM ID: 9104317 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-9077 (Electronic) Linking ISSN: 10507256 NLM ISO Abbreviation: Thyroid Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: New York, NY : Mary Ann Liebert Publishers, |
| مواضيع طبية MeSH: | Founder Effect* , Germ-Line Mutation*, Multiple Endocrine Neoplasia Type 2a/*genetics , Proto-Oncogene Proteins c-ret/*genetics , Thyroid Neoplasms/*genetics, Denmark ; Exons ; Gene Frequency ; Genotype ; Humans ; Pedigree ; Polymorphism, Single Nucleotide |
| مستخلص: | Background: Multiple endocrine neoplasia (MEN) 2A and 2B are caused by REarranged during Transfection (RET) germline mutations. In a recent nationwide study, an unusually high prevalence (33%) of families with the C611Y mutation was reported, and it was hypothesized that this might be due to a founder effect. The first nationwide study of haplotypes in MEN2A families was conducted, with the aim of investigating the relatedness and occurrence of de novo mutations among Danish families carrying similar mutations. Methods: The study included 21 apparently unrelated MEN2A families identified from a nationwide Danish RET cohort from 1994 to 2014. Twelve, two, two, three, and two families carried the C611Y, C618F, C618Y, C620R, and C634R mutations, respectively. Single nucleotide polymorphism chip data and identity by descent analysis were used to assess relatedness. Results: A common founder mutation was found among all 12 C611Y families and between both C618Y families. No relatedness was identified in the remaining families. Conclusion: The data suggest that all families with the C611Y germline mutation in Denmark originate from a recent common ancestor, probably explaining the unusually high prevalence of this mutation. Additionally, the results indicate that the C611Y mutation rarely arises de novo, thus underlining the need for thorough multigenerational genetic work up in carriers of this mutation. |
| فهرسة مساهمة: | Keywords: C611Y; Cys611Tyr; Denmark; REarranged during Transfection (RET); founder effect; multiple endocrine neoplasia 2A (MEN2A) |
| المشرفين على المادة: | EC 2.7.10.1 (Proto-Oncogene Proteins c-ret) |
| تواريخ الأحداث: | Date Created: 20171013 Date Completed: 20180723 Latest Revision: 20220331 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1089/thy.2017.0404 |
| PMID: | 29020875 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1557-9077 |
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| DOI: | 10.1089/thy.2017.0404 |