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

Axelle VuylstekeLaurens HannesHilde BremsKoen DevisMarleen RenardAnne UyttebroeckEric LegiusBrigitte Decallonne
Published 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.
Keyphrases
  • clinical evaluation
  • copy number
  • genome wide
  • early onset
  • high intensity
  • dna repair
  • middle aged
  • oxidative stress