Endocrine Abstracts

Introduction: Multiple endocrine neoplasia type 2 (MEN2) and medullary thyroid carcinoma (MTC) are autosomal-dominant inherited diseases caused by germline mutations within the RET protooncogene. Until now, genetic testing for mutations of exon 10, 11, 13, 14, 15 and 16 was recommended for these patients (familial and sporadic cases) to identify disease-causing mutations. Because of a strong genotype–phenotype correlation in these diseases, early genetic testing of...