APPARENTLY SPORADIC MEDULLARY THYROID CANCER (MTC)

WHAT’S THE PROPORTION OF PATIENTS WITH UNSUSPECTED GERMLINE MUTATIONS IN THE RET PROTOONCOGENE? CLINICAL IMPLICATIONS

This is an important consideration, since these patients -despite being initially diagnosed with apparently sporadic MTC – will have heritable disease. It is estimated that approximately 6 – 7 % (range 2 – 25 %) of these patients have germline RET mutations. Interestingly, a very high percentage (75 %) of patients with familial MTC have no prior family history. This has obvious clinical implications, since detection of unsuspected germline mutations in the RET protooncogene necessitates genetic counseling and testing of other family members.

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