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

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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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Acknowledgments

This study was supported by a grant from Ministero dell’Istruzione, Università e Ricerca No200734RMKE-002 (2008–2009 to C.M.) and PRIN 2006060473_003 (to G.O.). We also thank Mrs. Frances Anne Coburn for text editing.

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Authors and Affiliations

  1. Endocrinology Unit, University of Padua, Padua, Italy

    Caterina Mian, Laura Zambonin, Davide Nacamulli, Franco Mantero & Maria Elisa Girelli

  2. Department of Medical and Surgical Sciences, University of Padua, Via Giustiniani 2, Padua, Italy

    Caterina Mian, Laura Zambonin, Paolo Bernante, Maria Rosa Pelizzo, Davide Nacamulli, Franco Mantero, Maria Elisa Girelli & Giuseppe Opocher

  3. Veneto Institute of Oncology, Padua, Italy

    Susi Barollo & Gianmaria Pennelli

  4. Special Surgical Pathology Unit, University of Padua, Padua, Italy

    Paolo Bernante & Maria Rosa Pelizzo

  5. Familial Cancer Clinic, Veneto Institute of Oncology, Padua, Italy

    Giuseppe Opocher

Authors
  1. Caterina Mian
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  2. Susi Barollo
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  3. Laura Zambonin
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  4. Gianmaria Pennelli
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  5. Paolo Bernante
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  6. Maria Rosa Pelizzo
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  7. Davide Nacamulli
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  8. Franco Mantero
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  9. Maria Elisa Girelli
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  10. Giuseppe Opocher
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Corresponding author

Correspondence to Giuseppe Opocher.

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Mian, C., Barollo, S., Zambonin, L. et al. Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation. Familial Cancer 8, 379–382 (2009). https://doi.org/10.1007/s10689-009-9250-z

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  • DOI: https://doi.org/10.1007/s10689-009-9250-z

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