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

Abstract Objective The c.1998delinsTTCT variant in the RET gene (codon 666) is linked to medullary thyroid carcinoma in Belgium. We aimed to study the clinical phenotype and the age-dependent penetrance in predictive variant carriers. Design Retrospective study of index patients and predictive variant carriers, identified through familial cascade testing between 2001 and 2020. Results The total cohort comprised 119 patients: 15 index patients, 102 heterozygous, and 2 homozygous predictive variant carriers. Among heterozygous carriers, high suspicion of clinical disease was present in 25 patien... Mehr ...