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Published in:

01-12-2009

Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation

Authors: Caterina Mian, Susi Barollo, Laura Zambonin, Gianmaria Pennelli, Paolo Bernante, Maria Rosa Pelizzo, Davide Nacamulli, Franco Mantero, Maria Elisa Girelli, Giuseppe Opocher

Published in: Familial Cancer | Issue 4/2009

Abstract

RET codon 609 point mutations are rare and may predispose to aggressive medullary thyroid carcinoma (MTC). In a kindred with 15 carriers of the Cys609Ser RET mutation we observed no MTC before 17 years of age, no lymph node metastases before 30 years and no distant metastases before 60 years. Two patients developed pheochromocytoma and one had primary hyperparathyroidism as the first sign of the syndrome. In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation predispose to a scarcely aggressive, highly penetrant MTC and a low penetrance of pheochromocytoma and primary hyperparathyroidism.

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Title: Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation
Authors: Caterina Mian
Susi Barollo
Laura Zambonin
Gianmaria Pennelli
Paolo Bernante
Maria Rosa Pelizzo
Davide Nacamulli
Franco Mantero
Maria Elisa Girelli
Giuseppe Opocher
Publication date: 01-12-2009
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 4/2009
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-009-9250-z

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