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

Axelle Vuylsteke,Laurens Hannes,Hilde Brems, Koen Devis,Marleen Renard,Anne Uyttebroeck,Eric Legius,Brigitte Decallonne

European journal of endocrinology（2023）

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摘要

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.

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belgian families,oncogene,cohort study

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