Does genetic screening increase detection of familial medullary thyroid cancer in apparently sporadic cases?
Diana L Learoyd and Bruce G Robinson*
Correspondence *Royal North Shore Hospital, St Leonards, NSW 2065, Australia
Email bgr@med.usyd.edu.au
This article has no abstract so we have provided the first paragraph of the full text.
When assessing any new patient with MTC, a very careful family history is mandatory to determine whether one is dealing with hereditary or sporadic disease. Pheochromocytoma and hyperparathyroidism might be associated with hereditary disease and, if present, must be detected before surgery for MTC. Family history can be negative, however, as RET proto-oncogene mutations might not be penetrant until later in life.1 In order to identify those at risk of familial disease it is, therefore, important that universal RET mutation screening is undertaken (albeit with informed consent). Furthermore, excellent phenotype–genotype correlations exist to guide family management.2
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