Searchable abstracts of presentations at key conferences in endocrinology

ea0084ps2-08-70 | Thyroid Cancer BASIC | ETA2022

Biochemical and clinical characteristics of 16 belgian families with germline insttctdelg mutation affecting codon 666 of the retgene: a retrospective cohort study

Vuylsteke Axelle , Hannes Laurens , Uyttebroeck Anne , Legius Eric , Decallonne Brigitte

Background: Medullary thyroid carcinoma (MTC) can result from an inherited predisposition related to variants in the RET gene. The insTTCTdelG variant in codon 666 has been previously associated with MTC in one family, but larger studies are not available. We aim to describe biochemical and clinical characteristics associated with this genetic variant in sixteen Belgian families.Methods: Retrospective study of sixteen families in Belgium, evalua...