Accelerated MEN2A in homozygous RET carriers in the context of consanguinity
Authors' conclusion
These results, limited in scope and size and modulated by extent of consanguinity, are consistent with moderate dose-response effects accelerating MEN2A development.
Study context
- Population
- 5 RET families with ≥1 homozygous carrier and ≥3 heterozygous carriers per family5 RET families
- Comparison
- Homozygous vs heterozygous RET carriers
- Outcome
- Age at node-positive MTC and pheochromocytoma, consanguineous families with first-degree cousins
Main finding
As reported in the abstract
Node-positive MTC earlier in homozygotes than heterozygotes
27.4 years
Pheochromocytoma earlier in homozygotes than heterozygotes
23 years
Further findings
Node-positive MTC in 15 families carrying founder mutation p.Leu666delinsAsnSer
- Node-positive MTC earlier in homozygotes than heterozygotes
- 6 years
- Smaller age differences; homozygotes developed node-positive MTC in mid-40s vs heterozygotes in early 50s
Original publication
Accelerated MEN2A in homozygous RET carriers in the context of consanguinity. Eur J Endocrinol. Published 11 March 2024. doi:10.
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