Germline founder variant c.1998delinsTTCT in the RET oncogene: a cohort study in 15 Belgian families.
Axelle VuylstekeLaurens HannesHilde BremsKoen DevisMarleen RenardAnne UyttebroeckEric LegiusBrigitte DecallonnePublished in: European journal of endocrinology (2023)
The c.1998delinsTTCT- variant in the RET gene is pathogenic and associated with a moderate risk for medullary thyroid carcinoma and rarely with other MEN2A manifestations. Active surveillance is a possible option in heterozygous gene carriers with a negative first clinical evaluation.