| Title: |
Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2 |
| Authors: |
Hansen, Anna Reimer; Borgwardt, Line; Rasmussen, Åse Krogh; Godballe, Christian; Poulsen, Morten Møller; Vieira, Filipe G.; Mathiesen, Jes Sloth; Rossing, Maria |
| Source: |
Hansen, A R, Borgwardt, L, Rasmussen, Å K, Godballe, C, Poulsen, M M, Vieira, F G, Mathiesen, J S & Rossing, M 2021, 'Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2', Frontiers in Endocrinology, vol. 12, 764512. https://doi.org/10.3389/fendo.2021.764512 |
| Publication Year: |
2021 |
| Collection: |
Aarhus University: Research |
| Subject Terms: |
Genetics; Leu56Met; medullary thyroid cancer; multiple endocrine neoplasia type 2; RET |
| Description: |
Activating variants in the receptor tyrosine kinase REarranged during Transfection (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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| ISSN: |
1664-2392 |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/34925234; info:eu-repo/semantics/altIdentifier/pissn/1664-2392; info:eu-repo/semantics/altIdentifier/eissn/1664-2392 |
| DOI: |
10.3389/fendo.2021.764512 |
| Availability: |
https://pure.au.dk/portal/en/publications/1c2a9ce9-a856-48b1-bdbf-a5151dbec3a3; https://doi.org/10.3389/fendo.2021.764512; https://www.scopus.com/pages/publications/85121397215 |
| Rights: |
info:eu-repo/semantics/openAccess ; http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.EF9EE569 |
| Database: |
BASE |