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ea0044p249 | Thyroid | SFEBES2016

ESR2 mutations in RET mutation-negative familial medullary thyroid carcinoma

Afghan Wazir K. , Iacovazzo Donato , Alevizaki Maria , Foulkes William , Lugli Francesca , Druce Maralyn , Dutta Pinaki , Dang Mary N. , Gabrovska Plamena , Morrison Patrick J. , Owens Martina , Ellard Sian , Sampson Julian , De Marinis Laura , Korbonits Marta

Introduction: Approximately 25% of medullary thyroid cancer (MTC) cases arise in a familial setting, either as MEN2 or fMTC. While most of these are caused by mutations in the RET gene, a few families have unidentified mutations. Recently, a frameshift mutation in the ESR2 gene (coding oestrogen receptor beta) was found in a family with RET-negative fMTC associated with C-cell hyperplasia. In vitro, transfection of mutant ESR2 led t...

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ESR2 mutations in RET mutation-negative familial medullary thyroid carcinoma

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