Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1.

Rodrigo A Toledo,Delmar M Lourenço,Flavia L Coutinho,Elisangela Quedas,Ivone Mackowiack,Marcel C C Machado,Fabio Montenegro,Malebranche B C Cunha-Neto,Bernardo Liberman,Maria A A Pereira,Pedro H S Correa,Sergio P A Toledo

CLINICAL ENDOCRINOLOGY（2007）

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摘要

High frequencies of MEN1 gene mutations were detected in Brazilian families with MEN1, including seven new genetic mutations that are predicted to cause inactivation of the MEN1 tumour suppressor gene. Our data underscore the need to implement a systematic MEN1 screening programme in Brazil.

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关键词

germline mutations,multiple endocrine neoplasia type,brazilian families

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