CHEK2 Founder Variants and Thyroid Cancer Risk
Authors' conclusion
Our analyses of unselected patients with NMTC suggest that CHEK2 variants c.1100del and c.470T>C/p.I157T have only a modest impact on thyroid cancer risk.
Study context
- Population
- Unselected patients with non-medullary thyroid cancer (NMTC)
- Participants
- 1,544 / 789 / 499 / 1,593
- Comparison
- Carriage of CHEK2 founder variants in NMTC patients vs controls
- Genome-wide association study (GWAS)n = 1,544
- ORIEN Avatarn = 789
- The Cancer Genome Atlas (TCGA)n = 499
- Controlsn = 1,593reference
- Outcome
- Association of CHEK2 founder variants (c.444 + 1G>A, c.1100del, c.470T>C/p.Ile157Thr) with NMTC susceptibility (OR)
Methodological detailsthree NMTC case groups compared with the Ohio State University GWAS control group
- Three NMTC case groups compared with the Ohio State University GWAS control group
Main finding
As reported in the abstract
CHEK2 c.1100del and NMTC
Each group vs controlsOdds ratio (95% CI)
GWAS
1.71(0.73–4.29)
ORIEN Avatar
2.64(0.95–7.63)
TCGA
2.5(0.63–8.46)
Observational data: associations, not effects.
Further findings
| Outcome | GWAS | ORIEN Avatar | TCGA | OR (CI) | |
|---|---|---|---|---|---|
| CHEK2 c.470T>C/p.I157T and NMTCGWASvs Controls | 0.91% | 0.76% | 0.80% | 1.75 (0.74–4.39) | |
| CHEK2 c.470T>C/p.I157T and NMTCORIEN Avatarvs Controls | 1.52 (0.42–4.96) | ||||
| CHEK2 c.470T>C/p.I157T and NMTCTCGAvs Controls | 2.31 (0.58–7.90) | ||||
| 0.10.31310Odds ratio (log scale) |
CHEK2 c.444 + 1G>A (Polish variant)
- Cases with c.444 + 1G>A
- 1
Original publication
CHEK2 Founder Variants and Thyroid Cancer Risk. Thyroid. Published 27 February 2024. doi:10.
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