Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2
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Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2. / Hansen, Anna Reimer; Borgwardt, Line; Rasmussen, Åse Krogh; Godballe, Christian; Poulsen, Morten Møller; Vieira, Filipe G.; Mathiesen, Jes Sloth; Rossing, Maria.
I: Frontiers in Endocrinology, Bind 12, 764512, 2021.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2
AU - Hansen, Anna Reimer
AU - Borgwardt, Line
AU - Rasmussen, Åse Krogh
AU - Godballe, Christian
AU - Poulsen, Morten Møller
AU - Vieira, Filipe G.
AU - Mathiesen, Jes Sloth
AU - Rossing, Maria
N1 - Publisher Copyright: Copyright © 2021 Hansen, Borgwardt, Rasmussen, Godballe, Poulsen, Vieira, Mathiesen and Rossing.
PY - 2021
Y1 - 2021
N2 - 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.
AB - 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.
KW - Genetics
KW - Leu56Met
KW - medullary thyroid cancer
KW - multiple endocrine neoplasia type 2
KW - RET
U2 - 10.3389/fendo.2021.764512
DO - 10.3389/fendo.2021.764512
M3 - Journal article
C2 - 34925234
AN - SCOPUS:85121397215
VL - 12
JO - Frontiers in Endocrinology
JF - Frontiers in Endocrinology
SN - 1664-2392
M1 - 764512
ER -
ID: 288121991