Prevalence and genetics of “de novo” MEN2 syndromes
Authors' conclusion
The prevalence of de novo hereditary MEN2 syndromes was approximately 16%, including MEN2B, and around 9% for other phenotypes. All de novo cases were of paternal origin and likely resulted from an acquired alteration in sperm DNA. The possible role of advanced paternal age in promoting de novo mutations could not be ruled out.
Study context
- Population
- Families with hereditary medullary thyroid carcinoma (MTC); 152 of 215 families selected
- Participants
- 152 families
- Outcome
- Prevalence of de novo MEN2 syndromes and parental origin of the RET de novo mutation
Main finding
As reported in the abstract
De novo RET mutation in index case
- Families in which the index case had a de novo mutation
- 24 of 152 (15.78%)
- Mutation on the paternal allele (SNP analysis)
- all cases
Further findings
Paternal age at conception
- Mean age of fathers at conception relatively advanced in some cases but not all
Original publication
Prevalence and genetics of “de novo” MEN2 syndromes. J Clin Endocrinol Metab. Published 25 March 2025. doi:10.
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