AI Article Synopsis
- Germline mutations in the RET proto-oncogene, particularly in specific codons, are primarily linked to multiple endocrine neoplasia (MEN) type 2A, type 2B, and familial medullary thyroid carcinoma (FMTC).
- A new missense mutation found in the tyrosine kinase domain of RET, rather than the usual cysteine-rich domain, has been identified in a family with FMTC.
- This mutation, which changes codon 768 from Glu to Asp, is associated with the FMTC phenotype and has also been found in sporadic cases of medullary thyroid carcinoma, suggesting its potential pathological significance.
Article Abstract
Germline mutations within one of six codons of the RET proto-oncogene account for the majority of cases of multiple endocrine neoplasia (MEN) type 2A and type 2B and familial medullary thyroid carcinoma (FMTC). MEN 2A and FMTC mutations characterised thus far occur exclusively in the cysteine-rich domain of the extracellular region of RET. We now report a missense mutation in the intracellular tyrosine kinase domain of RET in the germline of a family with FMTC that does not have a cysteine codon mutation. In this family, the mutation, which alters GAG (Glu) to GAC (Asp) at codon 768, segregates with the FMTC phenotype. The same mutation was also detected in sporadic MTC but not in corresponding constitutional DNA, confirming that it is likely to be of pathological significance rather than a rare polymorphism.
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