Table 2.
Prospective risk of cancers in CDKN2A p.Arg112dup carriers (n=120) compared with non-carriers (n=111) and controls (n=3976)
| Tumour type | p.Arg112dup | Non-carriers | Controls | ||
|---|---|---|---|---|---|
| observed | expected* | RR (95% CI) | expected* | RR (95% CI) | |
| Melanoma | 35 | 3.61 | 9.7 (3.5 to 27.2) | 0.54 | 64.8 (36.9 to 117.9) |
| Pancreas | 7 | 0 | NA† | 0.16 | 43.8 (13.8 to 139.0) |
| Digestive—upper | 6 | 0 | NA† | 0.35 | 17.1 (6.3 to 46.5) |
| Respiratory | 5 | 0.90 | 5.6 (0.7 to 47.4) | 0.32 | 15.6 (5.4 to 46.0) |
| Gynaecological | 7 | 3.61 | 1.9 (0.6 to 6.6) | 0.80 | 8.8 (3.8 to 20.4) |
| Haematopoietic or lymphatic | 2 | 0 | NA† | 0.51 | 3.9 (0.6 to 10.6) |
| CNS | 1 | 0 | NA† | 0.29 | 3.4 (0.4 to 27.5) |
| Skin (non-melanoma) | 3 | 0.90 | 3.3 (0.3 to 31.9) | 0.92 | 3.3 (1.0 to 10.7) |
| Breast | 3 | 0.90 | 3.3 (0.3 to 31.9) | 0.99 | 3.0 (0.9 to 9.9) |
| Endocrine | 1 | 0 | NA† | 0.35 | 2.9 (0.4 to 22.1) |
| Urinary | 3 | 0.90 | 3.3 (0.3 to 31.9) | 1.75 | 1.7 (0.5 to 5.5) |
| Digestive—lower | 1 | 0 | NA† | 0.96 | 1.0 (0.1 to 7.7) |
| Connective tissue | 0 | 0 | NA† | 0.03 | 0.0 |
| Unknown primary tumour | 0 | 0 | NA† | 0.29 | 0.0 |
| All non-melanoma cancers | 39 | 8.12 | 4.8 (2.4 to 10.1) | 7.78 | 5.0 (3.7 to 7.3) |
*In non-carriers and controls, numbers of expected cases are calculated to correspond to equal person years as for carriers.
†NA=RR not calculable since 0 cases of cancer type in non-carriers.
RR, Relative risk.