Implication of molecular genetic examination in a three generational family with multiple endocrine neoplasia type 2A

Abstract

Medullary thyroid cancer (MTC) is rare form of thyroid cancer accounting for about 10 % of all thyroid malignancies. It occurs mostly as a sporadic tumour or in association with autosomal dominant inherited cancer syndromes - multiple endocrine neoplasia (MEN) types 2A and types 2B and familial MTC.

Germline mutations in the RET proto-oncogene were found in most of the familial cases. Here we describe molecular genetic detection in one MEN2A family with three generations, where we found a double germline mutation in exons 10 (Cys620Phe) and 13 (Tyr791Phe) of the RET proto-oncogene.

Keywords

• medullary thyroid cancer
• molecular genetics
• MEN2A syndrome
• RET proto-oncogene