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Molecular characterisation of a kindred with MEN2A and clinical implications.
Lemos, M C; Carrilho, F; Rodrigues, F J; Cavalheiro, M; Regateiro, F J; Ruas, M MMEN2A is an autossomal dominant cancer syndrome characterised by the presence of medullary thyroid cancer, pheochromocytoma and primary hyperparathyroidism. Germline mutations of the RET protooncogene constitute the molecular defect and can be identified in affected individuals. Genetic screening of family members at risk allows early diagnosis and preventive measures before the appearance of the disease. We pr...
Date: 2003
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Origin: Acta Médica Portuguesa