Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2
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 medu...
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Frontiers Media S.A.
2021
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oai:doaj.org-article:c8956c858a2e49a5a601b88ae41a02d32021-12-02T00:33:20ZGermline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 21664-239210.3389/fendo.2021.764512https://doaj.org/article/c8956c858a2e49a5a601b88ae41a02d32021-12-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fendo.2021.764512/fullhttps://doaj.org/toc/1664-2392Activating 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.Anna Reimer HansenLine BorgwardtÅse Krogh RasmussenChristian GodballeChristian GodballeMorten Møller PoulsenFilipe G. VieiraJes Sloth MathiesenJes Sloth MathiesenMaria RossingMaria RossingFrontiers Media S.A.articlemultiple endocrine neoplasia type 2medullary thyroid cancerRETLeu56MetGeneticsDiseases of the endocrine glands. Clinical endocrinologyRC648-665ENFrontiers in Endocrinology, Vol 12 (2021) |
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multiple endocrine neoplasia type 2 medullary thyroid cancer RET Leu56Met Genetics Diseases of the endocrine glands. Clinical endocrinology RC648-665 |
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multiple endocrine neoplasia type 2 medullary thyroid cancer RET Leu56Met Genetics Diseases of the endocrine glands. Clinical endocrinology RC648-665 Anna Reimer Hansen Line Borgwardt Åse Krogh Rasmussen Christian Godballe Christian Godballe Morten Møller Poulsen Filipe G. Vieira Jes Sloth Mathiesen Jes Sloth Mathiesen Maria Rossing Maria Rossing Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2 |
| 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. |
| format |
article |
| author |
Anna Reimer Hansen Line Borgwardt Åse Krogh Rasmussen Christian Godballe Christian Godballe Morten Møller Poulsen Filipe G. Vieira Jes Sloth Mathiesen Jes Sloth Mathiesen Maria Rossing Maria Rossing |
| author_facet |
Anna Reimer Hansen Line Borgwardt Åse Krogh Rasmussen Christian Godballe Christian Godballe Morten Møller Poulsen Filipe G. Vieira Jes Sloth Mathiesen Jes Sloth Mathiesen Maria Rossing Maria Rossing |
| author_sort |
Anna Reimer Hansen |
| title |
Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2 |
| title_short |
Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2 |
| title_full |
Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2 |
| title_fullStr |
Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2 |
| title_full_unstemmed |
Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2 |
| title_sort |
germline ret leu56met variant is likely not causative of multiple endocrine neoplasia type 2 |
| publisher |
Frontiers Media S.A. |
| publishDate |
2021 |
| url |
https://doaj.org/article/c8956c858a2e49a5a601b88ae41a02d3 |
| work_keys_str_mv |
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