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Edited in this revision:
Molecular genetic analysis was performed in 276 families with medullary thyroid carcinoma (31 familial and 245 apparently sporadic), 29 patients with apparently sporadic pheochromocytoma, and 122 families with Hirschsprung’s disease (a total of 427 families and unrelated individuals). The RET Y791F variant was found in 31 patients from 10 families — an allele frequency of 1.2% in these cases. The authors do not list any controls to compare this to.
If EVS data were considered a control group, these observations diverge from EVS data with a statistical significance of p=3.2 * 10^-6.
The authors observe high variability in type of disease and age of onset; while most cases are summarized as late onset and high cure rates, the authors report two patients carrying this variant with aggressive tumors. The authors conclude: “Despite the fact that the mutation was categorized as the least-high risk mutation, we tend to agree with recommendation to perform prophylactic total thyroidectomy in all carriers of the mutation regardless of calcitonin levels, ideally before 10 years of age.”