PMID: 7563486Oct 11, 1995Paper

Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II

JAMA : the Journal of the American Medical Association
H P NeumannH Brauch


Multiple endocrine neoplasia, type II (MEN-II) is an autosomal dominant disorder characterized by tumors of thyroid C cells and pheochromocytoma. Recently, germline mutations in the RET proto-oncogene have been identified in patients with MEN-II. The aims of this study were (1) to define the mutations in clinically diagnosed MEN-II families, (2) to compare the results of genetic and biochemical testing, and (3) to evaluate the impact of mutation analyses for the members of these families. Register-based survey study of clinically affected and unaffected members of MEN-II families. Register of families from Germany and Spain with pheochromocytomas. Two research laboratories at Cambridge University in the United Kingdom. We investigated consenting affected and unaffected members belonging to a series of 10 families who met the clinical criteria for MEN-II. (1) Presence or absence of germline mutation in the RET proto-oncogene in affected and unaffected members of the 10 families, and (2) in the absence of RET mutation in a given family, presence or absence of germline mutation in the von Hippel-Lindau (VHL) gene, which is the susceptibility gene involved in a closely related syndrome, von Hippel-Lindau disease. In eight of these ...Continue Reading


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