Endocrine Abstracts

Mutations of the RET proto-oncogene are associated with MEN and FMTC and aid diagnosis and predictive testing in family members. Genotype-phenotype correlations are also used to plan therapeutic decisions. We describe a 4 generation family with a rare E768D mutation in exon 13. The index case was diagnosed with MTC at age 54 and remains free of clinical disease 11 years following thyroidectomy and neck irradiation. 2 further family members were identified with MTC at age 25 an...