Table 2.
Estimated risk of PPGL and HNPGL for SDHB and SDHD carriers by age 5, 10, 16 and 18 y, respectively, in data from Andrews et al65
| SDHx subunit gene | Penetrance at age 5 y | Penetrance at age 10 y | Penetrance at age 16 y | Penetrance at age 18 y | ||||
|---|---|---|---|---|---|---|---|---|
| PPGL | HNPGL | PPGL | HNPGL | PPGL | HNPGL | PPGL | HNPGL | |
|
SDHB n = 598 |
0.17% [95% CI 0.0‐0.51] |
0% |
1.7% [95% CI 0.67‐2.8] |
0% |
7.6% [95% CI 5.4‐9.8] |
0.38% [95% CI 0.0‐0.90] |
10.2% [95% CI 7.6‐12.7 |
0.58% [95% CI 0.0‐1.2] |
|
SDHD n = 137 |
0% | 0% |
0.28% [95% CI 0.0‐0.82] |
0% |
3.1% [95% CI 0.062‐6.0] |
1.6% [95% CI 0.0‐3.7] |
7.0% [95% CI 2.5‐11.3] |
3.2% [95% CI 0.063‐6.1] |
|
SDHB a n = 371 |
0% | 0% |
0.28% [95% CI 0.0‐0.82] |
0% |
1.2% [95% CI 0.023‐2.4] |
0% |
2.2% [95% CI 0.56‐3.7] |
0.32% [95% CI 0.0‐0.94] |
|
SDHD a n = 67 |
0% | 0% | 0% | 0% | 0% | 0% |
6.4% [95% CI 0.13‐12.3] |
1.7% [95% CI 0.0‐4.9] |
NB. No confidence intervals are given before the first noncensored event (if no children in the cohort have experienced tumours by the age specified).
HNPGL, head and neck paraganglioma; PPGL, phaeochromocytoma and paraganglioma.
Nonproband gene carriers only (probands excluded from analysis).