Germline founder variant c.1998delinsTTCT in the RET oncogene: a cohort study in 15 Belgian families

CONCLUSION: 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.PMID:37713609 | DOI:10.1093/ejendo/lvad126

Source: European Journal of Endocrinology - September 15, 2023 Category: Endocrinology Authors: Axelle Vuylsteke Laurens Hannes Hilde Brems Koen Devis Marleen Renard Anne Uyttebroeck Eric Legius Brigitte Decallonne Source Type: research