Searchable abstracts of presentations at key conferences in endocrinology

ea0016p286 | Endocrine tumours | ECE2008

Two new mutations in the RET protooncogene: R770Q in coincidence with Y791N in the same family with medullary thyroid carcinoma

Rondot Susanne , Lorenz Angela , Schulze Egbert , Dralle Henning , Raue Friedhelm , Frank-Raue Karin

Context: Clinical studies are needed to classify rare and novel RET mutations associated with hereditary medullary thyroid carcinoma (MTC) into one of three clinical risk groups.Objective: We analyzed genotype–phenotype correlations associated with the RET protooncogene mutation R770Q in exon 13 which was detected simultaneously with a Y791N mutation in the same family.Results: Calcitonin determination in a 43-year-old female ...