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

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

doi:10.1007/s10689-009-9250-z

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

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

Istituto Oncologico Veneto

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	379-382
Number of pages	4
Journal	Familial Cancer
Volume	8
Issue number	4
DOIs	https://doi.org/10.1007/s10689-009-9250-z
Publication status	Published - Dec 2009

Keywords

Medullary thyroid carcinoma
MEN2A
Pheochromocytoma
RET

ASJC Scopus subject areas

Cancer Research
Genetics
Oncology
Genetics(clinical)

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10.1007/s10689-009-9250-z

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title = "Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation",

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.",

keywords = "Medullary thyroid carcinoma, MEN2A, Pheochromocytoma, RET",

author = "Caterina Mian and Susi Barollo and Laura Zambonin and Gianmaria Pennelli and Paolo Bernante and Pelizzo, {Maria Rosa} and Davide Nacamulli and Franco Mantero and Girelli, {Maria Elisa} and Giuseppe Opocher",

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doi = "10.1007/s10689-009-9250-z",

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T1 - Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation

AU - Mian, Caterina

AU - Barollo, Susi

AU - Zambonin, Laura

AU - Pennelli, Gianmaria

AU - Bernante, Paolo

AU - Pelizzo, Maria Rosa

AU - Nacamulli, Davide

AU - Mantero, Franco

AU - Girelli, Maria Elisa

AU - Opocher, Giuseppe

PY - 2009/12

Y1 - 2009/12

N2 - 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.

AB - 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.

KW - Medullary thyroid carcinoma

KW - MEN2A

KW - Pheochromocytoma

KW - RET

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

Abstract

Keywords

ASJC Scopus subject areas

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