Редкий герминальный аллельный вариант с.2657 G>A (p.Arg 886Gln) протоонкогена RET у пациентки с медуллярной карциномой щитовидной железы

We report a rare germline missense variant in the RET protooncogene found in a 55-year-old woman with medullary thyroid carcinoma (MTC). Calcitonin before surgery was 400 pg/ml (N = 2-6 pg/ml). Postoperative calcitonin was 0.45 pg/ml. Pheochromocytoma and hyperparathyroidism were excluded. Sanger sequencing of eight exons (5, 8, 10, 11, 13-16) (peripheral blood-derived genomic DNA) of the RET gene identified the heterozygous germline missense variant p.Arg886Gln (exon 15). But its clinical significance has not yet been determined. The proband`s parents were not available. In the control group we only found wild-type alleles.