27-bp Deletion in the ret proto-oncogene as a somatic mutation associated with medullary thyroid carcinoma

Abstract

Medullary thyroid carcinoma (MTC) occurs as a sporadic tumor or in connection with the inherited cancer syndromes of multiple endocrine neoplasia (MEN) types 2A and 2B and familial MTC. Missense RET proto-oncogene mutations of one of cysteine codons in exons 10 and 11 are found in the majority of families with MEN 2A and or familial MTC. In MEN 2B, mutations at codon 918, exon 16, have been identified in most of the affected individuals. In a significant amount of sporadic MTC somatic codon 918 mutations appear. In addition to these, a 6-bp deletion including codon 630 and a 24-bp deletion including codon 634 combined with a 6-bp insertion have been observed. We report on a 27-bp deletion in exon 10 as a somatic mutation associated with a sporadic medullary thyroid carcinoma.