Population Prevalence of the Major Thyroid Cancer–Associated Syndromes
Authors' conclusion
The prevalence of MEN2 and PHTS is ∼10 to 20 times higher than is currently estimated for the general population. Most affected individuals are not diagnosed with thyroid cancer. Our findings may change the clinical approach to patients with moderate-risk RET mutations.
Study context
- Population
- Participants of the All of Us Research Program and the UK Biobank with ClinVar P/LP variants identified
- Participants
- 245,394 vs 469,558
- Exposure
- All of Us vs UK Biobank
- All of Usn = 245,394
- UK Biobankn = 469,558
- Outcome
- Prevalence of thyroid cancer-associated syndromes (MEN2, PHTS, FAP) defined by P/LP variants
Main finding
As reported in the abstract
Prevalence of MEN2, PHTS and FAP
| Group | MEN2 | PTEN hamartoma tumor syndrome (PHTS) | FAP |
|---|---|---|---|
| All of Us | 1:2172 | 1:8764 | 1:8461 |
| UK Biobank | 1:2348 | 1:13 043 | 1:8238 |
MEN2
All of Us1:2172
UK Biobank1:2348
PTEN hamartoma tumor syndrome (PHTS)
All of Us1:8764
UK Biobank1:13 043
FAP
All of Us1:8461
UK Biobank1:8238
Observational data: associations, not effects.
Further findings
Association of hereditary syndromes with thyroid cancer (logistic regression)
- MEN2 (RET) associated with thyroid cancer
- P = 3.23e-20
- PHTS (PTEN) associated with thyroid cancer
- P = 2.59e-15
- FAP (APC) associated with thyroid cancer
- P = 2.73e-10
RET V804M and V804L variants in All of Us
- Share of all MEN2 variants in All of Us
- 65%
- Carriers diagnosed with thyroid cancer
- 0
Original publication
Population Prevalence of the Major Thyroid Cancer–Associated Syndromes. J Clin Endocrinol Metab. Published 15 April 2025. doi:10.
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