Prevalence and genetics of “de novo” MEN2 syndromes
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.
Authors
- Alessandro Prete (ORCID: https://orcid.org/0000-0003-3633-6916)
- Cristina Romei (ORCID: https://orcid.org/0000-0002-5957-8902)
- Antonio Matrone (ORCID: https://orcid.org/0000-0003-4263-4717)
- Raffaele Ciampi (ORCID: https://orcid.org/0000-0001-6345-9343)
- Roberta Casalini (ORCID: https://orcid.org/0009-0001-6017-5166)
- Rossella Elisei (ORCID: https://orcid.org/0000-0002-5333-9257)
- Virginia Cappagli (ORCID: https://orcid.org/0000-0003-0726-8125)
- Valeria Bottici
- Teresa Ramone
- Valeria Tascini
Institutions
- University of Pisa (IT)
- Azienda Ospedaliera Universitaria Pisana (IT)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-03-25
- DOI
- https://doi.org/10.1210/clinem/dgaf171
- Citations
- 2
- Primary Topic
- Thyroid Cancer Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 2.59