دورية أكاديمية
أعرض في EDS

Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2.

التفاصيل البيبلوغرافية
العنوان: Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2.
المؤلفون: Hansen AR; Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark., Borgwardt L; Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark., Rasmussen ÅK; Department of Endocrinology and Metabolism, Copenhagen University Hospital, Copenhagen, Denmark., Godballe C; Department of Otorhinolaryngology, Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Poulsen MM; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark., Vieira FG; Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark., Mathiesen JS; Department of Otorhinolaryngology, Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2021 Dec 01; Vol. 12, pp. 764512. Date of Electronic Publication: 2021 Dec 01 (Print Publication: 2021).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [Lausanne : Frontiers Research Foundation]
مواضيع طبية MeSH: Genetic Variation/*genetics , Germ-Line Mutation/*genetics , Leucine/*genetics , Methionine/*genetics , Multiple Endocrine Neoplasia Type 2a/*genetics , Proto-Oncogene Proteins c-ret/*genetics, Adult ; Aged ; Aged, 80 and over ; Cohort Studies ; Denmark/epidemiology ; Female ; Genetic Testing/methods ; Humans ; Male ; Middle Aged ; Multiple Endocrine Neoplasia Type 2a/diagnosis ; Multiple Endocrine Neoplasia Type 2a/epidemiology
مستخلص: Activating variants in the receptor tyrosine kinase RE arranged during T ransfection (RET) cause multiple endocrine neoplasia type 2 (MEN 2), an autosomal dominantly inherited cancer-susceptibility syndrome. The variant c.166C>A, p.Leu56Met in RET was recently reported in two patients with medullary thyroid cancer (MTC). The presence of a pheochromocytoma in one of the patients, suggested a possible pathogenic role of the variant in MEN 2A. Here, we present clinical follow up of a Danish RET Leu56Met cohort. Patients were evaluated for signs of MEN 2 according to a set of predefined criteria. None of the seven patients in our cohort exhibited evidence of MEN 2. Furthermore, we found the Leu56Met variant in our in-house diagnostic cohort with an allele frequency of 0.59%, suggesting that it is a common variant in the population. Additionally, none of the patients who harbored the allele were listed in the Danish MTC and MEN 2 registries. In conclusion, our findings do not support a pathogenic role of the Leu56Met variant in MEN 2.
Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
(Copyright © 2021 Hansen, Borgwardt, Rasmussen, Godballe, Poulsen, Vieira, Mathiesen and Rossing.)
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فهرسة مساهمة: Keywords: Genetics; Leu56Met; RET; medullary thyroid cancer; multiple endocrine neoplasia type 2
المشرفين على المادة: AE28F7PNPL (Methionine)
EC 2.7.10.1 (Proto-Oncogene Proteins c-ret)
EC 2.7.10.1 (RET protein, human)
GMW67QNF9C (Leucine)
تواريخ الأحداث: Date Created: 20211220 Date Completed: 20220217 Latest Revision: 20220217
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC8672160
DOI: 10.3389/fendo.2021.764512
PMID: 34925234
قاعدة البيانات: MEDLINE
الوصف
تدمد:1664-2392
DOI:10.3389/fendo.2021.764512